Canonical Allele Identifier: CA2495869871

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47471037_47471041delinsTAAAG , CM000664.2:g.47471037_47471041delinsTAAAG	GRCh38
NC_000002.11:g.47698176_47698180delinsTAAAG , CM000664.1:g.47698176_47698180delinsTAAAG	GRCh37
NC_000002.10:g.47551680_47551684delinsTAAAG	NCBI36
NG_007110.2:g.72914_72918delinsTAAAG , LRG_218:g.72914_72918delinsTAAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.1734_1738delinsTAAAG	ENSP00000495641.2:p.Val578=
ENST00000233146.7:c.1734_1738delinsTAAAG MANE Select	ENSP00000233146.2:p.Val578=
ENST00000543555.6:c.1536_1540delinsTAAAG	ENSP00000442697.1:p.Val512=
ENST00000644092.1:c.*34_*38delinsTAAAG	ENSP00000496351.1:n.*34_*38delinsTAAAG
ENST00000645339.1:c.1734_1738delinsTAAAG	ENSP00000496441.1:p.Val578=
ENST00000645506.1:c.1734_1738delinsTAAAG	ENSP00000495455.1:p.Val578=
ENST00000646415.1:c.1734_1738delinsTAAAG	ENSP00000495543.1:p.Val578=
ENST00000233146.6:c.1734_1738delinsTAAAG	ENSP00000233146.2:p.Val578=
ENST00000406134.5:c.1734_1738delinsTAAAG	ENSP00000384199.1:p.Val578=
ENST00000543555.5:c.1536_1540delinsTAAAG	ENSP00000442697.1:p.Val512=
ENST00000610696.4:c.*130_*134delinsTAAAG	ENSP00000483159.1:n.*130_*134delinsTAAAG
ENST00000613514.4:c.*274_*278delinsTAAAG	ENSP00000484137.1:n.*274_*278delinsTAAAG
ENST00000617333.3:c.*500_*504delinsTAAAG	ENSP00000482468.1:n.*500_*504delinsTAAAG
ENST00000617938.4:c.*706_*710delinsTAAAG	ENSP00000481158.1:n.*706_*710delinsTAAAG
ENST00000621359.2:c.1734_1738delinsTAAAG	ENSP00000481416.1:p.Val578=
NM_000251.2:c.1734_1738delinsTAAAG , LRG_218t1:c.1734_1738delinsTAAAG	NP_000242.1:p.Val578=
NM_001258281.1:c.1536_1540delinsTAAAG	NP_001245210.1:p.Val512=
XM_005264332.2:c.1734_1738delinsTAAAG	XP_005264389.2:p.Val578=
XM_011532867.1:c.1734_1738delinsTAAAG	XP_011531169.1:p.Val578=
XR_939685.1:n.1806_1810delinsTAAAG
XM_005264332.4:c.1734_1738delinsTAAAG	XP_005264389.2:p.Val578=
XM_011532867.2:c.1734_1738delinsTAAAG	XP_011531169.1:p.Val578=
XR_001738747.2:n.1796_1800delinsTAAAG
XR_939685.2:n.1796_1800delinsTAAAG
NM_000251.3:c.1734_1738delinsTAAAG MANE Select	NP_000242.1:p.Val578=