Canonical Allele Identifier: CA2695200491

Gene: MSH2

Linked Data

• ClinVar Variation Id: 2673439
• ClinVar RCV Id: RCV003450161

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478443_47478464del , CM000664.2:g.47478443_47478464del	GRCh38
NC_000002.11:g.47705582_47705603del , CM000664.1:g.47705582_47705603del	GRCh37
NC_000002.10:g.47559086_47559107del	NCBI36
NG_007110.2:g.80320_80341del , LRG_218:g.80320_80341del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.2382_2403del	ENSP00000495641.2:p.Ile794MetfsTer11
ENST00000233146.7:c.2382_2403del MANE Select	ENSP00000233146.2:p.Ile794MetfsTer11
ENST00000543555.6:c.2184_2205del	ENSP00000442697.1:p.Ile728MetfsTer11
ENST00000644092.1:c.*682_*703del	ENSP00000496351.1:n.*682_*703del
ENST00000644900.1:c.235_256del
ENST00000645339.1:c.2382_2403del	ENSP00000496441.1:p.Ile794MetfsTer11
ENST00000645506.1:c.2382_2403del	ENSP00000495455.1:p.Ile794MetfsTer11
ENST00000646415.1:c.2382_2403del	ENSP00000495543.1:p.Ile794MetfsTer11
ENST00000233146.6:c.2382_2403del	ENSP00000233146.2:p.Ile794MetfsTer11
ENST00000406134.5:c.2382_2403del	ENSP00000384199.1:p.Ile794MetfsTer11
ENST00000543555.5:c.2184_2205del	ENSP00000442697.1:p.Ile728MetfsTer11
ENST00000610696.4:c.*778_*799del	ENSP00000483159.1:n.*778_*799del
ENST00000613514.4:c.*922_*943del	ENSP00000484137.1:n.*922_*943del
ENST00000617333.3:c.*1148_*1169del	ENSP00000482468.1:n.*1148_*1169del
ENST00000617938.4:c.*1354_*1375del	ENSP00000481158.1:n.*1354_*1375del
ENST00000621359.2:c.2381_2402del	ENSP00000481416.1:p.Tyr794CysfsTer7
NM_000251.2:c.2382_2403del , LRG_218t1:c.2382_2403del	NP_000242.1:p.Ile794MetfsTer11
NM_001258281.1:c.2184_2205del	NP_001245210.1:p.Ile728MetfsTer11
XM_005264332.2:c.2382_2403del	XP_005264389.2:p.Ile794MetfsTer11
XM_011532867.1:c.2382_2403del	XP_011531169.1:p.Ile794MetfsTer11
XR_939685.1:n.2454_2475del
XM_005264332.4:c.2382_2403del	XP_005264389.2:p.Ile794MetfsTer11
XM_011532867.2:c.2382_2403del	XP_011531169.1:p.Ile794MetfsTer11
XR_001738747.2:n.2444_2465del
XR_939685.2:n.2444_2465del
NM_000251.3:c.2382_2403del MANE Select	NP_000242.1:p.Ile794MetfsTer11