Canonical Allele Identifier: CA018422

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90678
• ClinVar RCV Id: RCV000076174
• dbSNP Id: rs587779093
• MyVariant Identifiers: chr2:g.47690270T>A (hg19) ; chr2:g.47463131T>A (hg38)
• PubMed: PMID:8589682 ; PMID:17123147

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47463131T>A , CM000664.2:g.47463131T>A	GRCh38
NC_000002.11:g.47690270T>A , CM000664.1:g.47690270T>A	GRCh37
NC_000002.10:g.47543774T>A	NCBI36
NG_007110.2:g.65008T>A , LRG_218:g.65008T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1487T>A	ENSP00000495641.2:p.Leu496Ter
ENST00000233146.7:c.1487T>A MANE Select	ENSP00000233146.2:p.Leu496Ter
ENST00000543555.6:c.1289T>A	ENSP00000442697.1:p.Leu430Ter
ENST00000644092.1:c.1487T>A	ENSP00000496351.1:p.Leu496Ter
ENST00000645339.1:c.1487T>A	ENSP00000496441.1:p.Leu496Ter
ENST00000645506.1:c.1487T>A	ENSP00000495455.1:p.Leu496Ter
ENST00000646415.1:c.1487T>A	ENSP00000495543.1:p.Leu496Ter
ENST00000233146.6:c.1487T>A	ENSP00000233146.2:p.Leu496Ter
ENST00000406134.5:c.1487T>A	ENSP00000384199.1:p.Leu496Ter
ENST00000543555.5:c.1289T>A	ENSP00000442697.1:p.Leu430Ter
ENST00000610696.4:c.1487T>A	ENSP00000483159.1:p.Leu496Ter
ENST00000613514.4:c.*27T>A	ENSP00000484137.1:n.*27T>A
ENST00000617333.3:c.*253T>A	ENSP00000482468.1:n.*253T>A
ENST00000617938.4:c.*459T>A	ENSP00000481158.1:n.*459T>A
ENST00000621359.2:c.1487T>A	ENSP00000481416.1:p.Leu496Ter
NM_000251.2:c.1487T>A , LRG_218t1:c.1487T>A	NP_000242.1:p.Leu496Ter
NM_001258281.1:c.1289T>A	NP_001245210.1:p.Leu430Ter
XM_005264332.2:c.1487T>A	XP_005264389.2:p.Leu496Ter
XM_011532867.1:c.1487T>A	XP_011531169.1:p.Leu496Ter
XR_939685.1:n.1559T>A
XM_005264332.4:c.1487T>A	XP_005264389.2:p.Leu496Ter
XM_011532867.2:c.1487T>A	XP_011531169.1:p.Leu496Ter
XR_001738747.2:n.1549T>A
XR_939685.2:n.1549T>A
NM_000251.3:c.1487T>A MANE Select	NP_000242.1:p.Leu496Ter