Canonical Allele Identifier: CA345833311
Community Standard Title: NM_004850.5(ROCK2):c.1292C>T (p.Thr431Ile)
Gene: ROCK2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_004850.5:c.1292C>T MANE Select NP_004841.2:p.Thr431Ile
ENST00000315872.11:c.1292C>T MANE Select ENSP00000317985.6:p.Thr431Ile
NM_001321643.1:c.1034C>T NP_001308572.1:p.Thr345Ile
NM_001321643.2:c.1034C>T NP_001308572.1:p.Thr345Ile
NM_004850.3:c.1292C>T NP_004841.2:p.Thr431Ile
NM_004850.4:c.1292C>T NP_004841.2:p.Thr431Ile
ENST00000261535.7:c.1292C>T ENSP00000261535.3:p.Thr431Ile
ENST00000315872.10:c.1292C>T ENSP00000317985.6:p.Thr431Ile
ENST00000401753.5:c.563C>T ENSP00000385509.1:p.Thr188Ile
ENST00000484951.1:n.176C>T
ENST00000616279.4:c.-764C>T ENSP00000481789.1:n.-764C>T
ENST00000697752.1:c.1292C>T ENSP00000513431.1:p.Thr431Ile
ENST00000697791.1:n.333C>T
ENST00000697792.1:n.333C>T
XM_005246190.3:c.1292C>T XP_005246247.1:p.Thr431Ile
XM_011510417.1:c.1034C>T XP_011508719.1:p.Thr345Ile
XM_011510417.2:c.1034C>T XP_011508719.1:p.Thr345Ile
XM_017005378.2:c.1292C>T XP_016860867.1:p.Thr431Ile
XM_017005379.2:c.1034C>T XP_016860868.1:p.Thr345Ile