Canonical Allele Identifier: CA039407

Gene: MSH2

Linked Data

• ClinVar Variation Id: 408556
• ClinVar RCV Id: RCV000458204 ; RCV000566582 ; RCV000780450 ; RCV004000796 ; RCV004022695
• dbSNP Id: rs778573140
• ExAC: 2:47637455 A / C
• gnomAD v2: 2-47637455-A-C
• gnomAD v3: 2-47410316-A-C
• gnomAD v4: 2-47410316-A-C
• MyVariant Identifiers: chr2:g.47637455A>C (hg19) ; chr2:g.47410316A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47410316A>C , CM000664.2:g.47410316A>C	GRCh38
NC_000002.11:g.47637455A>C , CM000664.1:g.47637455A>C	GRCh37
NC_000002.10:g.47490959A>C	NCBI36
NG_007110.2:g.12193A>C , LRG_218:g.12193A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.589A>C	ENSP00000495641.2:p.Lys197Gln
ENST00000233146.7:c.589A>C MANE Select	ENSP00000233146.2:p.Lys197Gln
ENST00000543555.6:c.391A>C	ENSP00000442697.1:p.Lys131Gln
ENST00000644092.1:c.589A>C	ENSP00000496351.1:p.Lys197Gln
ENST00000645339.1:c.589A>C	ENSP00000496441.1:p.Lys197Gln
ENST00000645506.1:c.589A>C	ENSP00000495455.1:p.Lys197Gln
ENST00000646415.1:c.589A>C	ENSP00000495543.1:p.Lys197Gln
ENST00000233146.6:c.589A>C	ENSP00000233146.2:p.Lys197Gln
ENST00000406134.5:c.589A>C	ENSP00000384199.1:p.Lys197Gln
ENST00000454849.5:c.391A>C	ENSP00000411482.1:p.Lys131Gln
ENST00000543555.5:c.391A>C	ENSP00000442697.1:p.Lys131Gln
ENST00000610696.4:c.589A>C	ENSP00000483159.1:p.Lys197Gln
ENST00000613514.4:c.589A>C	ENSP00000484137.1:p.Lys197Gln
ENST00000617333.3:c.589A>C	ENSP00000482468.1:p.Lys197Gln
ENST00000617938.4:c.589A>C	ENSP00000481158.1:p.Lys197Gln
ENST00000621359.2:c.589A>C	ENSP00000481416.1:p.Lys197Gln
NM_000251.2:c.589A>C , LRG_218t1:c.589A>C	NP_000242.1:p.Lys197Gln
NM_001258281.1:c.391A>C	NP_001245210.1:p.Lys131Gln
XM_005264332.2:c.589A>C	XP_005264389.2:p.Lys197Gln
XM_011532867.1:c.589A>C	XP_011531169.1:p.Lys197Gln
XR_939685.1:n.661A>C
XM_005264332.4:c.589A>C	XP_005264389.2:p.Lys197Gln
XM_011532867.2:c.589A>C	XP_011531169.1:p.Lys197Gln
XR_001738747.2:n.651A>C
XR_939685.2:n.651A>C
NM_000251.3:c.589A>C MANE Select	NP_000242.1:p.Lys197Gln