Canonical Allele Identifier: CA2495876018

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480700_47480702delinsCTG , CM000664.2:g.47480700_47480702delinsCTG	GRCh38
NC_000002.11:g.47707839_47707841delinsCTG , CM000664.1:g.47707839_47707841delinsCTG	GRCh37
NC_000002.10:g.47561343_47561345delinsCTG	NCBI36
NG_007110.2:g.82577_82579delinsCTG , LRG_218:g.82577_82579delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2463_2465delinsCTG	ENSP00000495641.2:p.Val821=
ENST00000233146.7:c.2463_2465delinsCTG MANE Select	ENSP00000233146.2:p.Val821=
ENST00000543555.6:c.2265_2267delinsCTG	ENSP00000442697.1:p.Val755=
ENST00000644092.1:c.*763_*765delinsCTG	ENSP00000496351.1:n.*763_*765delinsCTG
ENST00000644900.1:c.316_318delinsCTG
ENST00000645339.1:c.2463_2465delinsCTG	ENSP00000496441.1:p.Val821=
ENST00000645506.1:c.2463_2465delinsCTG	ENSP00000495455.1:p.Val821=
ENST00000646415.1:c.2463_2465delinsCTG	ENSP00000495543.1:p.Val821=
ENST00000233146.6:c.2463_2465delinsCTG	ENSP00000233146.2:p.Val821=
ENST00000406134.5:c.2463_2465delinsCTG	ENSP00000384199.1:p.Val821=
ENST00000543555.5:c.2265_2267delinsCTG	ENSP00000442697.1:p.Val755=
ENST00000610696.4:c.*859_*861delinsCTG	ENSP00000483159.1:n.*859_*861delinsCTG
ENST00000613514.4:c.*1003_*1005delinsCTG	ENSP00000484137.1:n.*1003_*1005delinsCTG
ENST00000617333.3:c.*1229_*1231delinsCTG	ENSP00000482468.1:n.*1229_*1231delinsCTG
ENST00000617938.4:c.*1435_*1437delinsCTG	ENSP00000481158.1:n.*1435_*1437delinsCTG
ENST00000621359.2:c.*29_*31delinsCTG	ENSP00000481416.1:n.*29_*31delinsCTG
NM_000251.2:c.2463_2465delinsCTG , LRG_218t1:c.2463_2465delinsCTG	NP_000242.1:p.Val821=
NM_001258281.1:c.2265_2267delinsCTG	NP_001245210.1:p.Val755=
XM_005264332.2:c.2463_2465delinsCTG	XP_005264389.2:p.Val821=
XM_011532867.1:c.2463_2465delinsCTG	XP_011531169.1:p.Val821=
XR_939685.1:n.2535_2537delinsCTG
XM_005264332.4:c.2463_2465delinsCTG	XP_005264389.2:p.Val821=
XM_011532867.2:c.2463_2465delinsCTG	XP_011531169.1:p.Val821=
XR_001738747.2:n.2525_2527delinsCTG
XR_939685.2:n.2525_2527delinsCTG
NM_000251.3:c.2463_2465delinsCTG MANE Select	NP_000242.1:p.Val821=