Canonical Allele Identifier: CA913187986

Gene: MSH2

Linked Data

• ClinVar Variation Id: 924331
• ClinVar RCV Id: RCV001185618
• dbSNP Id: rs1667399090

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478452_47478459delinsG , CM000664.2:g.47478452_47478459delinsG	GRCh38
NC_000002.11:g.47705591_47705598delinsG , CM000664.1:g.47705591_47705598delinsG	GRCh37
NC_000002.10:g.47559095_47559102delinsG	NCBI36
NG_007110.2:g.80329_80336delinsG , LRG_218:g.80329_80336delinsG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2391_2398delinsG	ENSP00000495641.2:p.Asn798TyrfsTer12
ENST00000233146.7:c.2391_2398delinsG MANE Select	ENSP00000233146.2:p.Asn798TyrfsTer12
ENST00000543555.6:c.2193_2200delinsG	ENSP00000442697.1:p.Asn732TyrfsTer12
ENST00000644092.1:c.*691_*698delinsG	ENSP00000496351.1:n.*691_*698delinsG
ENST00000644900.1:c.244_251delinsG
ENST00000645339.1:c.2391_2398delinsG	ENSP00000496441.1:p.Asn798TyrfsTer12
ENST00000645506.1:c.2391_2398delinsG	ENSP00000495455.1:p.Asn798TyrfsTer12
ENST00000646415.1:c.2391_2398delinsG	ENSP00000495543.1:p.Asn798TyrfsTer12
ENST00000233146.6:c.2391_2398delinsG	ENSP00000233146.2:p.Asn798TyrfsTer12
ENST00000406134.5:c.2391_2398delinsG	ENSP00000384199.1:p.Asn798TyrfsTer12
ENST00000543555.5:c.2193_2200delinsG	ENSP00000442697.1:p.Asn732TyrfsTer12
ENST00000610696.4:c.*787_*794delinsG	ENSP00000483159.1:n.*787_*794delinsG
ENST00000613514.4:c.*931_*938delinsG	ENSP00000484137.1:n.*931_*938delinsG
ENST00000617333.3:c.*1157_*1164delinsG	ENSP00000482468.1:n.*1157_*1164delinsG
ENST00000617938.4:c.*1363_*1370delinsG	ENSP00000481158.1:n.*1363_*1370delinsG
ENST00000621359.2:c.2390_2397delinsG	ENSP00000481416.1:p.Leu797CysfsTer9
NM_000251.2:c.2391_2398delinsG , LRG_218t1:c.2391_2398delinsG	NP_000242.1:p.Asn798TyrfsTer12
NM_001258281.1:c.2193_2200delinsG	NP_001245210.1:p.Asn732TyrfsTer12
XM_005264332.2:c.2391_2398delinsG	XP_005264389.2:p.Asn798TyrfsTer12
XM_011532867.1:c.2391_2398delinsG	XP_011531169.1:p.Asn798TyrfsTer12
XR_939685.1:n.2463_2470delinsG
XM_005264332.4:c.2391_2398delinsG	XP_005264389.2:p.Asn798TyrfsTer12
XM_011532867.2:c.2391_2398delinsG	XP_011531169.1:p.Asn798TyrfsTer12
XR_001738747.2:n.2453_2460delinsG
XR_939685.2:n.2453_2460delinsG
NM_000251.3:c.2391_2398delinsG MANE Select	NP_000242.1:p.Asn798TyrfsTer12