Canonical Allele Identifier: CA2495865207

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47463032_47463033delinsTG , CM000664.2:g.47463032_47463033delinsTG	GRCh38
NC_000002.11:g.47690171_47690172delinsTG , CM000664.1:g.47690171_47690172delinsTG	GRCh37
NC_000002.10:g.47543675_47543676delinsTG	NCBI36
NG_007110.2:g.64909_64910delinsTG , LRG_218:g.64909_64910delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.1388_1389delinsTG	ENSP00000495641.2:p.Val463=
ENST00000233146.7:c.1388_1389delinsTG MANE Select	ENSP00000233146.2:p.Val463=
ENST00000543555.6:c.1190_1191delinsTG	ENSP00000442697.1:p.Val397=
ENST00000644092.1:c.1388_1389delinsTG	ENSP00000496351.1:p.Val463=
ENST00000645339.1:c.1388_1389delinsTG	ENSP00000496441.1:p.Val463=
ENST00000645506.1:c.1388_1389delinsTG	ENSP00000495455.1:p.Val463=
ENST00000646415.1:c.1388_1389delinsTG	ENSP00000495543.1:p.Val463=
ENST00000233146.6:c.1388_1389delinsTG	ENSP00000233146.2:p.Val463=
ENST00000406134.5:c.1388_1389delinsTG	ENSP00000384199.1:p.Val463=
ENST00000543555.5:c.1190_1191delinsTG	ENSP00000442697.1:p.Val397=
ENST00000610696.4:c.1388_1389delinsTG	ENSP00000483159.1:p.Val463=
ENST00000613514.4:c.1388_1389delinsTG	ENSP00000484137.1:p.Val463=
ENST00000617333.3:c.*154_*155delinsTG	ENSP00000482468.1:n.*154_*155delinsTG
ENST00000617938.4:c.*360_*361delinsTG	ENSP00000481158.1:n.*360_*361delinsTG
ENST00000621359.2:c.1388_1389delinsTG	ENSP00000481416.1:p.Val463=
NM_000251.2:c.1388_1389delinsTG , LRG_218t1:c.1388_1389delinsTG	NP_000242.1:p.Val463=
NM_001258281.1:c.1190_1191delinsTG	NP_001245210.1:p.Val397=
XM_005264332.2:c.1388_1389delinsTG	XP_005264389.2:p.Val463=
XM_011532867.1:c.1388_1389delinsTG	XP_011531169.1:p.Val463=
XR_939685.1:n.1460_1461delinsTG
XM_005264332.4:c.1388_1389delinsTG	XP_005264389.2:p.Val463=
XM_011532867.2:c.1388_1389delinsTG	XP_011531169.1:p.Val463=
XR_001738747.2:n.1450_1451delinsTG
XR_939685.2:n.1450_1451delinsTG
NM_000251.3:c.1388_1389delinsTG MANE Select	NP_000242.1:p.Val463=