Canonical Allele Identifier: CA040789
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 418314
dbSNP Id: rs144288433
gnomAD v2: 2-47641433-T-C
gnomAD v3: 2-47414294-T-C
gnomAD v4: 2-47414294-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47414294T>C , CM000664.2:g.47414294T>C GRCh38
NC_000002.11:g.47641433T>C , CM000664.1:g.47641433T>C GRCh37
NC_000002.10:g.47494937T>C NCBI36
NG_007110.2:g.16171T>C , LRG_218:g.16171T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.818T>C ENSP00000495641.2:p.Val273Ala
ENST00000233146.7:c.818T>C MANE Select ENSP00000233146.2:p.Val273Ala
ENST00000543555.6:c.620T>C ENSP00000442697.1:p.Val207Ala
ENST00000644092.1:c.818T>C ENSP00000496351.1:p.Val273Ala
ENST00000645339.1:c.818T>C ENSP00000496441.1:p.Val273Ala
ENST00000645506.1:c.818T>C ENSP00000495455.1:p.Val273Ala
ENST00000646415.1:c.818T>C ENSP00000495543.1:p.Val273Ala
ENST00000233146.6:c.818T>C ENSP00000233146.2:p.Val273Ala
ENST00000406134.5:c.818T>C ENSP00000384199.1:p.Val273Ala
ENST00000543555.5:c.620T>C ENSP00000442697.1:p.Val207Ala
ENST00000610696.4:c.818T>C ENSP00000483159.1:p.Val273Ala
ENST00000613514.4:c.818T>C ENSP00000484137.1:p.Val273Ala
ENST00000617333.3:c.818T>C ENSP00000482468.1:p.Val273Ala
ENST00000617938.4:c.818T>C ENSP00000481158.1:p.Val273Ala
ENST00000621359.2:c.818T>C ENSP00000481416.1:p.Val273Ala
NM_000251.2:c.818T>C , LRG_218t1:c.818T>C NP_000242.1:p.Val273Ala
NM_001258281.1:c.620T>C NP_001245210.1:p.Val207Ala
XM_005264332.2:c.818T>C XP_005264389.2:p.Val273Ala
XM_011532867.1:c.818T>C XP_011531169.1:p.Val273Ala
XR_939685.1:n.890T>C
XM_005264332.4:c.818T>C XP_005264389.2:p.Val273Ala
XM_011532867.2:c.818T>C XP_011531169.1:p.Val273Ala
XR_001738747.2:n.880T>C
XR_939685.2:n.880T>C
NM_000251.3:c.818T>C MANE Select NP_000242.1:p.Val273Ala