Canonical Allele Identifier: CA46700638

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475245_47475246delinsAT , CM000664.2:g.47475245_47475246delinsAT	GRCh38
NC_000002.11:g.47702384_47702385delinsAT , CM000664.1:g.47702384_47702385delinsAT	GRCh37
NC_000002.10:g.47555888_47555889delinsAT	NCBI36
NG_007110.2:g.77122_77123delinsAT , LRG_218:g.77122_77123delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1980_1981delinsAT	ENSP00000495641.2:p.Asp660GlufsTer2
ENST00000233146.7:c.1980_1981delinsAT MANE Select	ENSP00000233146.2:p.Asp660GlufsTer2
ENST00000543555.6:c.1782_1783delinsAT	ENSP00000442697.1:p.Asp594GlufsTer2
ENST00000644092.1:c.*280_*281delinsAT	ENSP00000496351.1:n.*280_*281delinsAT
ENST00000645339.1:c.1980_1981delinsAT	ENSP00000496441.1:p.Asp660GlufsTer2
ENST00000645506.1:c.1980_1981delinsAT	ENSP00000495455.1:p.Asp660GlufsTer2
ENST00000646415.1:c.1980_1981delinsAT	ENSP00000495543.1:p.Asp660GlufsTer2
ENST00000233146.6:c.1980_1981delinsAT	ENSP00000233146.2:p.Asp660GlufsTer2
ENST00000406134.5:c.1980_1981delinsAT	ENSP00000384199.1:p.Asp660GlufsTer2
ENST00000543555.5:c.1782_1783delinsAT	ENSP00000442697.1:p.Asp594GlufsTer2
ENST00000610696.4:c.*376_*377delinsAT	ENSP00000483159.1:n.*376_*377delinsAT
ENST00000613514.4:c.*520_*521delinsAT	ENSP00000484137.1:n.*520_*521delinsAT
ENST00000617333.3:c.*746_*747delinsAT	ENSP00000482468.1:n.*746_*747delinsAT
ENST00000617938.4:c.*952_*953delinsAT	ENSP00000481158.1:n.*952_*953delinsAT
ENST00000621359.2:c.1980_1981delinsAT	ENSP00000481416.1:p.Asp660GlufsTer2
NM_000251.2:c.1980_1981delinsAT , LRG_218t1:c.1980_1981delinsAT	NP_000242.1:p.Asp660GlufsTer2
NM_001258281.1:c.1782_1783delinsAT	NP_001245210.1:p.Asp594GlufsTer2
XM_005264332.2:c.1980_1981delinsAT	XP_005264389.2:p.Asp660GlufsTer2
XM_011532867.1:c.1980_1981delinsAT	XP_011531169.1:p.Asp660GlufsTer2
XR_939685.1:n.2052_2053delinsAT
XM_005264332.4:c.1980_1981delinsAT	XP_005264389.2:p.Asp660GlufsTer2
XM_011532867.2:c.1980_1981delinsAT	XP_011531169.1:p.Asp660GlufsTer2
XR_001738747.2:n.2042_2043delinsAT
XR_939685.2:n.2042_2043delinsAT
NM_000251.3:c.1980_1981delinsAT MANE Select	NP_000242.1:p.Asp660GlufsTer2