Canonical Allele Identifier: CA020996
Gene: MSH2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 36575
dbSNP Id: rs193922373

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47408493G>A , CM000664.2:g.47408493G>A GRCh38
NC_000002.10:g.47489136G>A NCBI36
NC_000002.11:g.47635632G>A , CM000664.1:g.47635632G>A GRCh37
NG_007110.2:g.10370G>A , LRG_218:g.10370G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000233146.6:c.304G>A ENSP00000233146.2:p.Val102Ile
ENST00000406134.5:c.304G>A ENSP00000384199.1:p.Val102Ile
ENST00000454849.5:c.106G>A ENSP00000411482.1:p.Val36Ile
ENST00000543555.5:c.106G>A ENSP00000442697.1:p.Val36Ile
ENST00000610696.4:c.304G>A ENSP00000483159.1:p.Val102Ile
ENST00000613514.4:c.304G>A ENSP00000484137.1:p.Val102Ile
ENST00000617333.3:c.304G>A ENSP00000482468.1:p.Val102Ile
ENST00000617938.4:c.304G>A ENSP00000481158.1:p.Val102Ile
ENST00000621359.2:c.304G>A ENSP00000481416.1:p.Val102Ile
NM_000251.2:c.304G>A , LRG_218t1:c.304G>A NP_000242.1:p.Val102Ile
NM_001258281.1:c.106G>A VV NP_001245210.1:p.Val36Ile
XM_005264332.2:c.304G>A XP_005264389.2:p.Val102Ile
XM_011532867.1:c.304G>A XP_011531169.1:p.Val102Ile
XR_939685.1:n.376G>A
XM_005264332.4:c.304G>A
XM_011532867.2:c.304G>A
XR_001738747.2:n.366G>A
XR_939685.2:n.366G>A