Canonical Allele Identifier: CA2580066977

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1790572
• ClinVar RCV Id: RCV002430647

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478453_47478457delinsG , CM000664.2:g.47478453_47478457delinsG	GRCh38
NC_000002.11:g.47705592_47705596delinsG , CM000664.1:g.47705592_47705596delinsG	GRCh37
NC_000002.10:g.47559096_47559100delinsG	NCBI36
NG_007110.2:g.80330_80334delinsG , LRG_218:g.80330_80334delinsG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2392_2396delinsG	ENSP00000495641.2:p.Asn798ValfsTer13
ENST00000233146.7:c.2392_2396delinsG MANE Select	ENSP00000233146.2:p.Asn798ValfsTer13
ENST00000543555.6:c.2194_2198delinsG	ENSP00000442697.1:p.Asn732ValfsTer13
ENST00000644092.1:c.*692_*696delinsG	ENSP00000496351.1:n.*692_*696delinsG
ENST00000644900.1:c.245_249delinsG
ENST00000645339.1:c.2392_2396delinsG	ENSP00000496441.1:p.Asn798ValfsTer13
ENST00000645506.1:c.2392_2396delinsG	ENSP00000495455.1:p.Asn798ValfsTer13
ENST00000646415.1:c.2392_2396delinsG	ENSP00000495543.1:p.Asn798ValfsTer13
ENST00000233146.6:c.2392_2396delinsG	ENSP00000233146.2:p.Asn798ValfsTer13
ENST00000406134.5:c.2392_2396delinsG	ENSP00000384199.1:p.Asn798ValfsTer13
ENST00000543555.5:c.2194_2198delinsG	ENSP00000442697.1:p.Asn732ValfsTer13
ENST00000610696.4:c.*788_*792delinsG	ENSP00000483159.1:n.*788_*792delinsG
ENST00000613514.4:c.*932_*936delinsG	ENSP00000484137.1:n.*932_*936delinsG
ENST00000617333.3:c.*1158_*1162delinsG	ENSP00000482468.1:n.*1158_*1162delinsG
ENST00000617938.4:c.*1364_*1368delinsG	ENSP00000481158.1:n.*1364_*1368delinsG
ENST00000621359.2:c.2391_2395delinsG	ENSP00000481416.1:p.Ile798SerfsTer9
NM_000251.2:c.2392_2396delinsG , LRG_218t1:c.2392_2396delinsG	NP_000242.1:p.Asn798ValfsTer13
NM_001258281.1:c.2194_2198delinsG	NP_001245210.1:p.Asn732ValfsTer13
XM_005264332.2:c.2392_2396delinsG	XP_005264389.2:p.Asn798ValfsTer13
XM_011532867.1:c.2392_2396delinsG	XP_011531169.1:p.Asn798ValfsTer13
XR_939685.1:n.2464_2468delinsG
XM_005264332.4:c.2392_2396delinsG	XP_005264389.2:p.Asn798ValfsTer13
XM_011532867.2:c.2392_2396delinsG	XP_011531169.1:p.Asn798ValfsTer13
XR_001738747.2:n.2454_2458delinsG
XR_939685.2:n.2454_2458delinsG
NM_000251.3:c.2392_2396delinsG MANE Select	NP_000242.1:p.Asn798ValfsTer13