ClinVar

NM_018263.6(ASXL2):c.4262G>C (p.Cys1421Ser)

Gene:

ASXL2:ASXL transcriptional regulator 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.3

Genomic location:

• Chr2: 25742075 (on Assembly GRCh38)
• Chr2: 25964944 (on Assembly GRCh37)

Preferred name:

NM_018263.6(ASXL2):c.4262G>C (p.Cys1421Ser)

HGVS:

• NC_000002.12:g.25742075C>G
• NG_052995.1:g.141442G>C
• NM_001369346.1:c.4088G>C
• NM_001369347.1:c.3482G>C
• NM_018263.6:c.4262G>CMANE SELECT
• NP_001356275.1:p.Cys1363Ser
• NP_001356276.1:p.Cys1161Ser
• NP_060733.4:p.Cys1421Ser
• LRG_1421t1:c.4262G>C
• LRG_1421:g.141442G>C
• LRG_1421p1:p.Cys1421Ser
• NC_000002.11:g.25964944C>G

This HGVS expression did not pass validation

Protein change:

C1161S

Molecular consequence:

• NM_001369346.1:c.4088G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369347.1:c.3482G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_018263.6:c.4262G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1