Canonical Allele Identifier: CA040395
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 841179
dbSNP Id: rs755965129
gnomAD v2: 2-47639681-G-T
gnomAD v4: 2-47412542-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47412542G>T , CM000664.2:g.47412542G>T GRCh38
NC_000002.11:g.47639681G>T , CM000664.1:g.47639681G>T GRCh37
NC_000002.10:g.47493185G>T NCBI36
NG_007110.2:g.14419G>T , LRG_218:g.14419G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.774G>T ENSP00000495641.2:p.Leu258Phe
ENST00000233146.7:c.774G>T MANE Select ENSP00000233146.2:p.Leu258Phe
ENST00000543555.6:c.576G>T ENSP00000442697.1:p.Leu192Phe
ENST00000644092.1:c.774G>T ENSP00000496351.1:p.Leu258Phe
ENST00000645339.1:c.774G>T ENSP00000496441.1:p.Leu258Phe
ENST00000645506.1:c.774G>T ENSP00000495455.1:p.Leu258Phe
ENST00000646415.1:c.774G>T ENSP00000495543.1:p.Leu258Phe
ENST00000233146.6:c.774G>T ENSP00000233146.2:p.Leu258Phe
ENST00000406134.5:c.774G>T ENSP00000384199.1:p.Leu258Phe
ENST00000543555.5:c.576G>T ENSP00000442697.1:p.Leu192Phe
ENST00000610696.4:c.774G>T ENSP00000483159.1:p.Leu258Phe
ENST00000613514.4:c.774G>T ENSP00000484137.1:p.Leu258Phe
ENST00000617333.3:c.774G>T ENSP00000482468.1:p.Leu258Phe
ENST00000617938.4:c.774G>T ENSP00000481158.1:p.Leu258Phe
ENST00000621359.2:c.774G>T ENSP00000481416.1:p.Leu258Phe
NM_000251.2:c.774G>T , LRG_218t1:c.774G>T NP_000242.1:p.Leu258Phe
NM_001258281.1:c.576G>T NP_001245210.1:p.Leu192Phe
XM_005264332.2:c.774G>T XP_005264389.2:p.Leu258Phe
XM_011532867.1:c.774G>T XP_011531169.1:p.Leu258Phe
XR_939685.1:n.846G>T
XM_005264332.4:c.774G>T XP_005264389.2:p.Leu258Phe
XM_011532867.2:c.774G>T XP_011531169.1:p.Leu258Phe
XR_001738747.2:n.836G>T
XR_939685.2:n.836G>T
NM_000251.3:c.774G>T MANE Select NP_000242.1:p.Leu258Phe