Canonical Allele Identifier: CA769443475

Gene: MSH2

Linked Data

• dbSNP Id: rs1347683200
• gnomAD v3: 2-47403138-T-C
• gnomAD v4: 2-47403138-T-C
• MyVariant Identifiers: chr2:g.47630277T>C (hg19) ; chr2:g.47403138T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47403138T>C , CM000664.2:g.47403138T>C	GRCh38
NC_000002.11:g.47630277T>C , CM000664.1:g.47630277T>C	GRCh37
NC_000002.10:g.47483781T>C	NCBI36
NG_007110.2:g.5015T>C , LRG_218:g.5015T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000543555.6:c.-68T>C	ENSP00000442697.1:n.-68T>C
ENST00000644092.1:c.-54T>C	ENSP00000496351.1:n.-54T>C
ENST00000645339.1:c.-54T>C	ENSP00000496441.1:n.-54T>C
ENST00000645506.1:c.-54T>C	ENSP00000495455.1:n.-54T>C
ENST00000646415.1:c.-54T>C	ENSP00000495543.1:n.-54T>C
ENST00000233146.6:c.-54T>C	ENSP00000233146.2:n.-54T>C
ENST00000406134.5:c.-54T>C	ENSP00000384199.1:n.-54T>C
ENST00000454849.5:c.-68T>C	ENSP00000411482.1:n.-68T>C
ENST00000543555.5:c.-68T>C	ENSP00000442697.1:n.-68T>C
NM_000251.2:c.-54T>C , LRG_218t1:c.-54T>C	NP_000242.1:n.-54T>C
NM_001258281.1:c.-68T>C	NP_001245210.1:n.-68T>C
XM_005264332.2:c.-54T>C	XP_005264389.2:n.-54T>C
XM_011532867.1:c.-54T>C	XP_011531169.1:n.-54T>C
XR_939685.1:n.19T>C
XM_005264332.4:c.-54T>C	XP_005264389.2:n.-54T>C
XM_011532867.2:c.-54T>C	XP_011531169.1:n.-54T>C
XR_001738747.2:n.9T>C
XR_939685.2:n.9T>C