Canonical Allele Identifier: CA2495873683

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476508_47476512delinsACAGT , CM000664.2:g.47476508_47476512delinsACAGT	GRCh38
NC_000002.11:g.47703647_47703651delinsACAGT , CM000664.1:g.47703647_47703651delinsACAGT	GRCh37
NC_000002.10:g.47557151_47557155delinsACAGT	NCBI36
NG_007110.2:g.78385_78389delinsACAGT , LRG_218:g.78385_78389delinsACAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2147_2151delinsACAGT	ENSP00000495641.2:p.Asp716=
ENST00000233146.7:c.2147_2151delinsACAGT MANE Select	ENSP00000233146.2:p.Asp716=
ENST00000543555.6:c.1949_1953delinsACAGT	ENSP00000442697.1:p.Asp650=
ENST00000644092.1:c.*447_*451delinsACAGT	ENSP00000496351.1:n.*447_*451delinsACAGT
ENST00000645339.1:c.2147_2151delinsACAGT	ENSP00000496441.1:p.Asp716=
ENST00000645506.1:c.2147_2151delinsACAGT	ENSP00000495455.1:p.Asp716=
ENST00000646415.1:c.2147_2151delinsACAGT	ENSP00000495543.1:p.Asp716=
ENST00000233146.6:c.2147_2151delinsACAGT	ENSP00000233146.2:p.Asp716=
ENST00000406134.5:c.2147_2151delinsACAGT	ENSP00000384199.1:p.Asp716=
ENST00000543555.5:c.1949_1953delinsACAGT	ENSP00000442697.1:p.Asp650=
ENST00000610696.4:c.*543_*547delinsACAGT	ENSP00000483159.1:n.*543_*547delinsACAGT
ENST00000613514.4:c.*687_*691delinsACAGT	ENSP00000484137.1:n.*687_*691delinsACAGT
ENST00000617333.3:c.*913_*917delinsACAGT	ENSP00000482468.1:n.*913_*917delinsACAGT
ENST00000617938.4:c.*1119_*1123delinsACAGT	ENSP00000481158.1:n.*1119_*1123delinsACAGT
ENST00000621359.2:c.2147_2151delinsACAGT	ENSP00000481416.1:p.Asp716=
NM_000251.2:c.2147_2151delinsACAGT , LRG_218t1:c.2147_2151delinsACAGT	NP_000242.1:p.Asp716=
NM_001258281.1:c.1949_1953delinsACAGT	NP_001245210.1:p.Asp650=
XM_005264332.2:c.2147_2151delinsACAGT	XP_005264389.2:p.Asp716=
XM_011532867.1:c.2147_2151delinsACAGT	XP_011531169.1:p.Asp716=
XR_939685.1:n.2219_2223delinsACAGT
XM_005264332.4:c.2147_2151delinsACAGT	XP_005264389.2:p.Asp716=
XM_011532867.2:c.2147_2151delinsACAGT	XP_011531169.1:p.Asp716=
XR_001738747.2:n.2209_2213delinsACAGT
XR_939685.2:n.2209_2213delinsACAGT
NM_000251.3:c.2147_2151delinsACAGT MANE Select	NP_000242.1:p.Asp716=