Canonical Allele Identifier: CA041178
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 219619
dbSNP Id: rs756398636
gnomAD v2: 2-47641549-C-G
gnomAD v3: 2-47414410-C-G
gnomAD v4: 2-47414410-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47414410C>G , CM000664.2:g.47414410C>G GRCh38
NC_000002.11:g.47641549C>G , CM000664.1:g.47641549C>G GRCh37
NC_000002.10:g.47495053C>G NCBI36
NG_007110.2:g.16287C>G , LRG_218:g.16287C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.934C>G ENSP00000495641.2:p.Leu312Val
ENST00000233146.7:c.934C>G MANE Select ENSP00000233146.2:p.Leu312Val
ENST00000543555.6:c.736C>G ENSP00000442697.1:p.Leu246Val
ENST00000644092.1:c.934C>G ENSP00000496351.1:p.Leu312Val
ENST00000645339.1:c.934C>G ENSP00000496441.1:p.Leu312Val
ENST00000645506.1:c.934C>G ENSP00000495455.1:p.Leu312Val
ENST00000646415.1:c.934C>G ENSP00000495543.1:p.Leu312Val
ENST00000233146.6:c.934C>G ENSP00000233146.2:p.Leu312Val
ENST00000406134.5:c.934C>G ENSP00000384199.1:p.Leu312Val
ENST00000543555.5:c.736C>G ENSP00000442697.1:p.Leu246Val
ENST00000610696.4:c.934C>G ENSP00000483159.1:p.Leu312Val
ENST00000613514.4:c.934C>G ENSP00000484137.1:p.Leu312Val
ENST00000617333.3:c.934C>G ENSP00000482468.1:p.Leu312Val
ENST00000617938.4:c.934C>G ENSP00000481158.1:p.Leu312Val
ENST00000621359.2:c.934C>G ENSP00000481416.1:p.Leu312Val
NM_000251.2:c.934C>G , LRG_218t1:c.934C>G NP_000242.1:p.Leu312Val
NM_001258281.1:c.736C>G NP_001245210.1:p.Leu246Val
XM_005264332.2:c.934C>G XP_005264389.2:p.Leu312Val
XM_011532867.1:c.934C>G XP_011531169.1:p.Leu312Val
XR_939685.1:n.1006C>G
XM_005264332.4:c.934C>G XP_005264389.2:p.Leu312Val
XM_011532867.2:c.934C>G XP_011531169.1:p.Leu312Val
XR_001738747.2:n.996C>G
XR_939685.2:n.996C>G
NM_000251.3:c.934C>G MANE Select NP_000242.1:p.Leu312Val