Canonical Allele Identifier: CA2695200719

Gene: MSH2

Linked Data

• ClinVar Variation Id: 2673358
• ClinVar RCV Id: RCV003455983

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478383del , CM000664.2:g.47478383del	GRCh38
NC_000002.11:g.47705522del , CM000664.1:g.47705522del	GRCh37
NC_000002.10:g.47559026del	NCBI36
NG_007110.2:g.80260del , LRG_218:g.80260del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2322del	ENSP00000495641.2:p.Ile774MetfsTer?
ENST00000233146.7:c.2322del MANE Select	ENSP00000233146.2:p.Ile774MetfsTer?
ENST00000543555.6:c.2124del	ENSP00000442697.1:p.Ile708MetfsTer?
ENST00000644092.1:c.*622del	ENSP00000496351.1:n.*622del
ENST00000644900.1:c.175del
ENST00000645339.1:c.2322del	ENSP00000496441.1:p.Ile774MetfsTer?
ENST00000645506.1:c.2322del	ENSP00000495455.1:p.Ile774MetfsTer?
ENST00000646415.1:c.2322del	ENSP00000495543.1:p.Ile774MetfsTer?
ENST00000233146.6:c.2322del	ENSP00000233146.2:p.Ile774MetfsTer?
ENST00000406134.5:c.2322del	ENSP00000384199.1:p.Ile774MetfsTer?
ENST00000543555.5:c.2124del	ENSP00000442697.1:p.Ile708MetfsTer?
ENST00000610696.4:c.*718del	ENSP00000483159.1:n.*718del
ENST00000613514.4:c.*862del	ENSP00000484137.1:n.*862del
ENST00000617333.3:c.*1088del	ENSP00000482468.1:n.*1088del
ENST00000617938.4:c.*1294del	ENSP00000481158.1:n.*1294del
ENST00000621359.2:c.2322del	ENSP00000481416.1:p.Ile774MetfsTer12
NM_000251.2:c.2322del , LRG_218t1:c.2322del	NP_000242.1:p.Ile774MetfsTer?
NM_001258281.1:c.2124del	NP_001245210.1:p.Ile708MetfsTer?
XM_005264332.2:c.2322del	XP_005264389.2:p.Ile774MetfsTer?
XM_011532867.1:c.2322del	XP_011531169.1:p.Ile774MetfsTer?
XR_939685.1:n.2394del
XM_005264332.4:c.2322del	XP_005264389.2:p.Ile774MetfsTer?
XM_011532867.2:c.2322del	XP_011531169.1:p.Ile774MetfsTer?
XR_001738747.2:n.2384del
XR_939685.2:n.2384del
NM_000251.3:c.2322del MANE Select	NP_000242.1:p.Ile774MetfsTer?