ClinVar

NM_004850.5(ROCK2):c.2878G>C (p.Glu960Gln)

Gene:

ROCK2:Rho associated coiled-coil containing protein kinase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p25.1

Genomic location:

• Chr2: 11200989 (on Assembly GRCh38)
• Chr2: 11341115 (on Assembly GRCh37)

Preferred name:

NM_004850.5(ROCK2):c.2878G>C (p.Glu960Gln)

HGVS:

• NC_000002.12:g.11200989C>G
• NG_029769.1:g.148597G>C
• NM_001321643.2:c.2620G>C
• NM_004850.5:c.2878G>CMANE SELECT
• NP_001308572.1:p.Glu874Gln
• NP_004841.2:p.Glu960Gln
• NC_000002.11:g.11341115C>G
• NM_004850.3:c.2878G>C

This HGVS expression did not pass validation

Protein change:

E874Q

Links:

dbSNP: rs1558285391

NCBI 1000 Genomes Browser:

rs1558285391

Molecular consequence:

• NM_001321643.2:c.2620G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_004850.5:c.2878G>C - missense variant - [Sequence Ontology: SO:0001583]