Canonical Allele Identifier: CA1530417

Gene: ROCK2

Linked Data

• ClinVar Variation Id: 403387
• ClinVar RCV Id: RCV000454422
• dbSNP Id: rs2230774
• ExAC: 2:11359120 G / T
• gnomAD v2: 2-11359120-G-T
• gnomAD v3: 2-11218994-G-T
• gnomAD v4: 2-11218994-G-T
• MyVariant Identifiers: chr2:g.11359120G>T (hg19) ; chr2:g.11218994G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.11218994G>T , CM000664.2:g.11218994G>T	GRCh38
NC_000002.11:g.11359120G>T , CM000664.1:g.11359120G>T	GRCh37
NC_000002.10:g.11276571G>T	NCBI36
NG_029769.1:g.130592C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697752.1:c.1292C>A	ENSP00000513431.1:p.Thr431Asn
ENST00000697791.1:n.333C>A
ENST00000697792.1:n.333C>A
ENST00000315872.11:c.1292C>A MANE Select	ENSP00000317985.6:p.Thr431Asn
ENST00000261535.7:c.1292C>A	ENSP00000261535.3:p.Thr431Asn
ENST00000315872.10:c.1292C>A	ENSP00000317985.6:p.Thr431Asn
ENST00000401753.5:c.563C>A	ENSP00000385509.1:p.Thr188Asn
ENST00000484951.1:n.176C>A
ENST00000616279.4:c.-764C>A	ENSP00000481789.1:n.-764C>A
NM_004850.3:c.1292C>A	NP_004841.2:p.Thr431Asn
XM_005246190.3:c.1292C>A	XP_005246247.1:p.Thr431Asn
XM_011510417.1:c.1034C>A	XP_011508719.1:p.Thr345Asn
NM_001321643.1:c.1034C>A	NP_001308572.1:p.Thr345Asn
NM_004850.4:c.1292C>A	NP_004841.2:p.Thr431Asn
XM_011510417.2:c.1034C>A	XP_011508719.1:p.Thr345Asn
XM_017005378.2:c.1292C>A	XP_016860867.1:p.Thr431Asn
XM_017005379.2:c.1034C>A	XP_016860868.1:p.Thr345Asn
NM_004850.5:c.1292C>A MANE Select	NP_004841.2:p.Thr431Asn
NM_001321643.2:c.1034C>A	NP_001308572.1:p.Thr345Asn