Canonical Allele Identifier: CA2495872406

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475058_47475068delinsTGTTAGCTCAG , CM000664.2:g.47475058_47475068delinsTGTTAGCTCAG	GRCh38
NC_000002.11:g.47702197_47702207delinsTGTTAGCTCAG , CM000664.1:g.47702197_47702207delinsTGTTAGCTCAG	GRCh37
NC_000002.10:g.47555701_47555711delinsTGTTAGCTCAG	NCBI36
NG_007110.2:g.76935_76945delinsTGTTAGCTCAG , LRG_218:g.76935_76945delinsTGTTAGCTCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1793_1803delinsTGTTAGCTCAG	ENSP00000495641.2:p.Val598=
ENST00000233146.7:c.1793_1803delinsTGTTAGCTCAG MANE Select	ENSP00000233146.2:p.Val598=
ENST00000543555.6:c.1595_1605delinsTGTTAGCTCAG	ENSP00000442697.1:p.Val532=
ENST00000644092.1:c.*93_*103delinsTGTTAGCTCAG	ENSP00000496351.1:n.*93_*103delinsTGTTAGCTCAG
ENST00000645339.1:c.1793_1803delinsTGTTAGCTCAG	ENSP00000496441.1:p.Val598=
ENST00000645506.1:c.1793_1803delinsTGTTAGCTCAG	ENSP00000495455.1:p.Val598=
ENST00000646415.1:c.1793_1803delinsTGTTAGCTCAG	ENSP00000495543.1:p.Val598=
ENST00000233146.6:c.1793_1803delinsTGTTAGCTCAG	ENSP00000233146.2:p.Val598=
ENST00000406134.5:c.1793_1803delinsTGTTAGCTCAG	ENSP00000384199.1:p.Val598=
ENST00000543555.5:c.1595_1605delinsTGTTAGCTCAG	ENSP00000442697.1:p.Val532=
ENST00000610696.4:c.*189_*199delinsTGTTAGCTCAG	ENSP00000483159.1:n.*189_*199delinsTGTTAGCTCAG
ENST00000613514.4:c.*333_*343delinsTGTTAGCTCAG	ENSP00000484137.1:n.*333_*343delinsTGTTAGCTCAG
ENST00000617333.3:c.*559_*569delinsTGTTAGCTCAG	ENSP00000482468.1:n.*559_*569delinsTGTTAGCTCAG
ENST00000617938.4:c.*765_*775delinsTGTTAGCTCAG	ENSP00000481158.1:n.*765_*775delinsTGTTAGCTCAG
ENST00000621359.2:c.1793_1803delinsTGTTAGCTCAG	ENSP00000481416.1:p.Val598=
NM_000251.2:c.1793_1803delinsTGTTAGCTCAG , LRG_218t1:c.1793_1803delinsTGTTAGCTCAG	NP_000242.1:p.Val598=
NM_001258281.1:c.1595_1605delinsTGTTAGCTCAG	NP_001245210.1:p.Val532=
XM_005264332.2:c.1793_1803delinsTGTTAGCTCAG	XP_005264389.2:p.Val598=
XM_011532867.1:c.1793_1803delinsTGTTAGCTCAG	XP_011531169.1:p.Val598=
XR_939685.1:n.1865_1875delinsTGTTAGCTCAG
XM_005264332.4:c.1793_1803delinsTGTTAGCTCAG	XP_005264389.2:p.Val598=
XM_011532867.2:c.1793_1803delinsTGTTAGCTCAG	XP_011531169.1:p.Val598=
XR_001738747.2:n.1855_1865delinsTGTTAGCTCAG
XR_939685.2:n.1855_1865delinsTGTTAGCTCAG
NM_000251.3:c.1793_1803delinsTGTTAGCTCAG MANE Select	NP_000242.1:p.Val598=