Canonical Allele Identifier: CA658655670

Gene: MSH2

Linked Data

• ClinVar Variation Id: 455534
• ClinVar RCV Id: RCV000532791
• dbSNP Id: rs1553348898
• MyVariant Identifiers: chr2:g.47630523_47630524insTC (hg19) ; chr2:g.47403384_47403385insTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47403384_47403385insTC , CM000664.2:g.47403384_47403385insTC	GRCh38
NC_000002.11:g.47630523_47630524insTC , CM000664.1:g.47630523_47630524insTC	GRCh37
NC_000002.10:g.47484027_47484028insTC	NCBI36
NG_007110.2:g.5261_5262insTC , LRG_218:g.5261_5262insTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.193_194insTC	ENSP00000495641.2:p.Lys65IlefsTer20
ENST00000233146.7:c.193_194insTC MANE Select	ENSP00000233146.2:p.Lys65IlefsTer20
ENST00000543555.6:c.-6_-5insTC	ENSP00000442697.1:n.-6_-5insTC
ENST00000644092.1:c.193_194insTC	ENSP00000496351.1:p.Lys65IlefsTer20
ENST00000645339.1:c.193_194insTC	ENSP00000496441.1:p.Lys65IlefsTer20
ENST00000645506.1:c.193_194insTC	ENSP00000495455.1:p.Lys65IlefsTer20
ENST00000646415.1:c.193_194insTC	ENSP00000495543.1:p.Lys65IlefsTer20
ENST00000233146.6:c.193_194insTC	ENSP00000233146.2:p.Lys65IlefsTer20
ENST00000406134.5:c.193_194insTC	ENSP00000384199.1:p.Lys65IlefsTer20
ENST00000454849.5:c.-6_-5insTC	ENSP00000411482.1:n.-6_-5insTC
ENST00000543555.5:c.-6_-5insTC	ENSP00000442697.1:n.-6_-5insTC
ENST00000610696.4:c.193_194insTC	ENSP00000483159.1:p.Lys65IlefsTer20
ENST00000613514.4:c.193_194insTC	ENSP00000484137.1:p.Lys65IlefsTer20
ENST00000617333.3:c.193_194insTC	ENSP00000482468.1:p.Lys65IlefsTer20
ENST00000617938.4:c.193_194insTC	ENSP00000481158.1:p.Lys65IlefsTer20
ENST00000621359.2:c.193_194insTC	ENSP00000481416.1:p.Lys65IlefsTer20
NM_000251.2:c.193_194insTC , LRG_218t1:c.193_194insTC	NP_000242.1:p.Lys65IlefsTer20
NM_001258281.1:c.-6_-5insTC	NP_001245210.1:n.-6_-5insTC
XM_005264332.2:c.193_194insTC	XP_005264389.2:p.Lys65IlefsTer20
XM_011532867.1:c.193_194insTC	XP_011531169.1:p.Lys65IlefsTer20
XR_939685.1:n.265_266insTC
XM_005264332.4:c.193_194insTC	XP_005264389.2:p.Lys65IlefsTer20
XM_011532867.2:c.193_194insTC	XP_011531169.1:p.Lys65IlefsTer20
XR_001738747.2:n.255_256insTC
XR_939685.2:n.255_256insTC
NM_000251.3:c.193_194insTC MANE Select	NP_000242.1:p.Lys65IlefsTer20