Canonical Allele Identifier: CA2695200489

Gene: MSH2

Linked Data

• ClinVar Variation Id: 2673315
• ClinVar RCV Id: RCV003455940

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478436del , CM000664.2:g.47478436del	GRCh38
NC_000002.11:g.47705575del , CM000664.1:g.47705575del	GRCh37
NC_000002.10:g.47559079del	NCBI36
NG_007110.2:g.80313del , LRG_218:g.80313del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.2375del	ENSP00000495641.2:p.Asn792IlefsTer20
ENST00000233146.7:c.2375del MANE Select	ENSP00000233146.2:p.Asn792IlefsTer20
ENST00000543555.6:c.2177del	ENSP00000442697.1:p.Asn726IlefsTer20
ENST00000644092.1:c.*675del	ENSP00000496351.1:n.*675del
ENST00000644900.1:c.228del
ENST00000645339.1:c.2375del	ENSP00000496441.1:p.Asn792IlefsTer20
ENST00000645506.1:c.2375del	ENSP00000495455.1:p.Asn792IlefsTer20
ENST00000646415.1:c.2375del	ENSP00000495543.1:p.Asn792IlefsTer20
ENST00000233146.6:c.2375del	ENSP00000233146.2:p.Asn792IlefsTer20
ENST00000406134.5:c.2375del	ENSP00000384199.1:p.Asn792IlefsTer20
ENST00000543555.5:c.2177del	ENSP00000442697.1:p.Asn726IlefsTer20
ENST00000610696.4:c.*771del	ENSP00000483159.1:n.*771del
ENST00000613514.4:c.*915del	ENSP00000484137.1:n.*915del
ENST00000617333.3:c.*1141del	ENSP00000482468.1:n.*1141del
ENST00000617938.4:c.*1347del	ENSP00000481158.1:n.*1347del
ENST00000621359.2:c.2374del	ENSP00000481416.1:p.Ile792SerfsTer6
NM_000251.2:c.2375del , LRG_218t1:c.2375del	NP_000242.1:p.Asn792IlefsTer20
NM_001258281.1:c.2177del	NP_001245210.1:p.Asn726IlefsTer20
XM_005264332.2:c.2375del	XP_005264389.2:p.Asn792IlefsTer20
XM_011532867.1:c.2375del	XP_011531169.1:p.Asn792IlefsTer20
XR_939685.1:n.2447del
XM_005264332.4:c.2375del	XP_005264389.2:p.Asn792IlefsTer20
XM_011532867.2:c.2375del	XP_011531169.1:p.Asn792IlefsTer20
XR_001738747.2:n.2437del
XR_939685.2:n.2437del
NM_000251.3:c.2375del MANE Select	NP_000242.1:p.Asn792IlefsTer20