Canonical Allele Identifier: CA1139656919

Gene: MSH2

Linked Data

• ClinVar Variation Id: 826505
• ClinVar RCV Id: RCV001025445
• dbSNP Id: rs1672219851
• gnomAD v4: 2-47403127-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47403127G>A , CM000664.2:g.47403127G>A	GRCh38
NC_000002.11:g.47630266G>A , CM000664.1:g.47630266G>A	GRCh37
NC_000002.10:g.47483770G>A	NCBI36
NG_007110.2:g.5004G>A , LRG_218:g.5004G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000543555.6:c.-79G>A	ENSP00000442697.1:n.-79G>A
ENST00000644092.1:c.-65G>A	ENSP00000496351.1:n.-65G>A
ENST00000645339.1:c.-65G>A	ENSP00000496441.1:n.-65G>A
ENST00000645506.1:c.-65G>A	ENSP00000495455.1:n.-65G>A
ENST00000646415.1:c.-65G>A	ENSP00000495543.1:n.-65G>A
ENST00000233146.6:c.-65G>A	ENSP00000233146.2:n.-65G>A
ENST00000454849.5:c.-79G>A	ENSP00000411482.1:n.-79G>A
ENST00000543555.5:c.-79G>A	ENSP00000442697.1:n.-79G>A
NM_000251.2:c.-65G>A , LRG_218t1:c.-65G>A	NP_000242.1:n.-65G>A
NM_001258281.1:c.-79G>A	NP_001245210.1:n.-79G>A
XM_005264332.2:c.-65G>A	XP_005264389.2:n.-65G>A
XM_011532867.1:c.-65G>A	XP_011531169.1:n.-65G>A
XR_939685.1:n.8G>A