Canonical Allele Identifier: CA916528964
Gene: MSH2 HGNC NCBI

Linked Data

dbSNP Id: rs1573519265

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47445568_47445570del , CM000664.2:g.47445568_47445570del GRCh38
NC_000002.11:g.47672707_47672709del , CM000664.1:g.47672707_47672709del GRCh37
NC_000002.10:g.47526211_47526213del NCBI36
NG_007110.2:g.47445_47447del , LRG_218:g.47445_47447del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.1297_1299del ENSP00000495641.2:p.Leu433del
ENST00000233146.7:c.1297_1299del MANE Select ENSP00000233146.2:p.Leu433del
ENST00000543555.6:c.1099_1101del ENSP00000442697.1:p.Leu367del
ENST00000644092.1:c.1297_1299del ENSP00000496351.1:p.Leu433del
ENST00000645339.1:c.1297_1299del ENSP00000496441.1:p.Leu433del
ENST00000645506.1:c.1297_1299del ENSP00000495455.1:p.Leu433del
ENST00000646415.1:c.1297_1299del ENSP00000495543.1:p.Leu433del
ENST00000233146.6:c.1297_1299del ENSP00000233146.2:p.Leu433del
ENST00000406134.5:c.1297_1299del ENSP00000384199.1:p.Leu433del
ENST00000543555.5:c.1099_1101del ENSP00000442697.1:p.Leu367del
ENST00000610696.4:c.1297_1299del ENSP00000483159.1:p.Leu433del
ENST00000613514.4:c.1297_1299del ENSP00000484137.1:p.Leu433del
ENST00000617333.3:c.*63_*65del ENSP00000482468.1:n.*63_*65del
ENST00000617938.4:c.*269_*271del ENSP00000481158.1:n.*269_*271del
ENST00000621359.2:c.1297_1299del ENSP00000481416.1:p.Leu433del
NM_000251.2:c.1297_1299del , LRG_218t1:c.1297_1299del NP_000242.1:p.Leu433del
NM_001258281.1:c.1099_1101del NP_001245210.1:p.Leu367del
XM_005264332.2:c.1297_1299del XP_005264389.2:p.Leu433del
XM_011532867.1:c.1297_1299del XP_011531169.1:p.Leu433del
XR_939685.1:n.1369_1371del
XM_005264332.4:c.1297_1299del XP_005264389.2:p.Leu433del
XM_011532867.2:c.1297_1299del XP_011531169.1:p.Leu433del
XR_001738747.2:n.1359_1361del
XR_939685.2:n.1359_1361del
NM_000251.3:c.1297_1299del MANE Select NP_000242.1:p.Leu433del