Canonical Allele Identifier: CA2580066948

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1780103
• ClinVar RCV Id: RCV002404162

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475052_47475058delinsCATC , CM000664.2:g.47475052_47475058delinsCATC	GRCh38
NC_000002.11:g.47702191_47702197delinsCATC , CM000664.1:g.47702191_47702197delinsCATC	GRCh37
NC_000002.10:g.47555695_47555701delinsCATC	NCBI36
NG_007110.2:g.76929_76935delinsCATC , LRG_218:g.76929_76935delinsCATC

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.1787_1793delinsCATC	ENSP00000495641.2:p.Asn596_Val598delinsTh...
ENST00000233146.7:c.1787_1793delinsCATC MANE Select	ENSP00000233146.2:p.Asn596_Val598delinsTh...
ENST00000543555.6:c.1589_1595delinsCATC	ENSP00000442697.1:p.Asn530_Val532delinsTh...
ENST00000644092.1:c.*87_*93delinsCATC	ENSP00000496351.1:n.*87_*93delinsCATC
ENST00000645339.1:c.1787_1793delinsCATC	ENSP00000496441.1:p.Asn596_Val598delinsTh...
ENST00000645506.1:c.1787_1793delinsCATC	ENSP00000495455.1:p.Asn596_Val598delinsTh...
ENST00000646415.1:c.1787_1793delinsCATC	ENSP00000495543.1:p.Asn596_Val598delinsTh...
ENST00000233146.6:c.1787_1793delinsCATC	ENSP00000233146.2:p.Asn596_Val598delinsTh...
ENST00000406134.5:c.1787_1793delinsCATC	ENSP00000384199.1:p.Asn596_Val598delinsTh...
ENST00000543555.5:c.1589_1595delinsCATC	ENSP00000442697.1:p.Asn530_Val532delinsTh...
ENST00000610696.4:c.*183_*189delinsCATC	ENSP00000483159.1:n.*183_*189delinsCATC
ENST00000613514.4:c.*327_*333delinsCATC	ENSP00000484137.1:n.*327_*333delinsCATC
ENST00000617333.3:c.*553_*559delinsCATC	ENSP00000482468.1:n.*553_*559delinsCATC
ENST00000617938.4:c.*759_*765delinsCATC	ENSP00000481158.1:n.*759_*765delinsCATC
ENST00000621359.2:c.1787_1793delinsCATC	ENSP00000481416.1:p.Asn596_Val598delinsTh...
NM_000251.2:c.1787_1793delinsCATC , LRG_218t1:c.1787_1793delinsCATC	NP_000242.1:p.Asn596_Val598delinsThrSer
NM_001258281.1:c.1589_1595delinsCATC	NP_001245210.1:p.Asn530_Val532delinsThrSe...
XM_005264332.2:c.1787_1793delinsCATC	XP_005264389.2:p.Asn596_Val598delinsThrSe...
XM_011532867.1:c.1787_1793delinsCATC	XP_011531169.1:p.Asn596_Val598delinsThrSe...
XR_939685.1:n.1859_1865delinsCATC
XM_005264332.4:c.1787_1793delinsCATC	XP_005264389.2:p.Asn596_Val598delinsThrSe...
XM_011532867.2:c.1787_1793delinsCATC	XP_011531169.1:p.Asn596_Val598delinsThrSe...
XR_001738747.2:n.1849_1855delinsCATC
XR_939685.2:n.1849_1855delinsCATC
NM_000251.3:c.1787_1793delinsCATC MANE Select	NP_000242.1:p.Asn596_Val598delinsThrSer