Canonical Allele Identifier: CA2573134860

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1459094
• ClinVar RCV Id: RCV001958838 ; RCV003471193
• dbSNP Id: rs2104405789

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478424del , CM000664.2:g.47478424del	GRCh38
NC_000002.11:g.47705563del , CM000664.1:g.47705563del	GRCh37
NC_000002.10:g.47559067del	NCBI36
NG_007110.2:g.80301del , LRG_218:g.80301del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.2363del	ENSP00000495641.2:p.Thr788MetfsTer24
ENST00000233146.7:c.2363del MANE Select	ENSP00000233146.2:p.Thr788MetfsTer24
ENST00000543555.6:c.2165del	ENSP00000442697.1:p.Thr722MetfsTer24
ENST00000644092.1:c.*663del	ENSP00000496351.1:n.*663del
ENST00000644900.1:c.216del
ENST00000645339.1:c.2363del	ENSP00000496441.1:p.Thr788MetfsTer24
ENST00000645506.1:c.2363del	ENSP00000495455.1:p.Thr788MetfsTer24
ENST00000646415.1:c.2363del	ENSP00000495543.1:p.Thr788MetfsTer24
ENST00000233146.6:c.2363del	ENSP00000233146.2:p.Thr788MetfsTer24
ENST00000406134.5:c.2363del	ENSP00000384199.1:p.Thr788MetfsTer24
ENST00000543555.5:c.2165del	ENSP00000442697.1:p.Thr722MetfsTer24
ENST00000610696.4:c.*759del	ENSP00000483159.1:n.*759del
ENST00000613514.4:c.*903del	ENSP00000484137.1:n.*903del
ENST00000617333.3:c.*1129del	ENSP00000482468.1:n.*1129del
ENST00000617938.4:c.*1335del	ENSP00000481158.1:n.*1335del
ENST00000621359.2:c.2362del	ENSP00000481416.1:p.Leu788CysfsTer10
NM_000251.2:c.2363del , LRG_218t1:c.2363del	NP_000242.1:p.Thr788MetfsTer24
NM_001258281.1:c.2165del	NP_001245210.1:p.Thr722MetfsTer24
XM_005264332.2:c.2363del	XP_005264389.2:p.Thr788MetfsTer24
XM_011532867.1:c.2363del	XP_011531169.1:p.Thr788MetfsTer24
XR_939685.1:n.2435del
XM_005264332.4:c.2363del	XP_005264389.2:p.Thr788MetfsTer24
XM_011532867.2:c.2363del	XP_011531169.1:p.Thr788MetfsTer24
XR_001738747.2:n.2425del
XR_939685.2:n.2425del
NM_000251.3:c.2363del MANE Select	NP_000242.1:p.Thr788MetfsTer24