Canonical Allele Identifier: CA2495865252
Gene: MSH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47463086_47463091delinsTAAGAG , CM000664.2:g.47463086_47463091delinsTAAGAG GRCh38
NC_000002.11:g.47690225_47690230delinsTAAGAG , CM000664.1:g.47690225_47690230delinsTAAGAG GRCh37
NC_000002.10:g.47543729_47543734delinsTAAGAG NCBI36
NG_007110.2:g.64963_64968delinsTAAGAG , LRG_218:g.64963_64968delinsTAAGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.1442_1447delinsTAAGAG ENSP00000495641.2:p.Leu481=
ENST00000233146.7:c.1442_1447delinsTAAGAG MANE Select ENSP00000233146.2:p.Leu481=
ENST00000543555.6:c.1244_1249delinsTAAGAG ENSP00000442697.1:p.Leu415=
ENST00000644092.1:c.1442_1447delinsTAAGAG ENSP00000496351.1:p.Leu481=
ENST00000645339.1:c.1442_1447delinsTAAGAG ENSP00000496441.1:p.Leu481=
ENST00000645506.1:c.1442_1447delinsTAAGAG ENSP00000495455.1:p.Leu481=
ENST00000646415.1:c.1442_1447delinsTAAGAG ENSP00000495543.1:p.Leu481=
ENST00000233146.6:c.1442_1447delinsTAAGAG ENSP00000233146.2:p.Leu481=
ENST00000406134.5:c.1442_1447delinsTAAGAG ENSP00000384199.1:p.Leu481=
ENST00000543555.5:c.1244_1249delinsTAAGAG ENSP00000442697.1:p.Leu415=
ENST00000610696.4:c.1442_1447delinsTAAGAG ENSP00000483159.1:p.Leu481=
ENST00000613514.4:c.1442_1447-2delinsTAAGAG
ENST00000617333.3:c.*208_*213delinsTAAGAG ENSP00000482468.1:n.*208_*213delinsTAAGAG
ENST00000617938.4:c.*414_*419delinsTAAGAG ENSP00000481158.1:n.*414_*419delinsTAAGAG
ENST00000621359.2:c.1442_1447delinsTAAGAG ENSP00000481416.1:p.Leu481=
NM_000251.2:c.1442_1447delinsTAAGAG , LRG_218t1:c.1442_1447delinsTAAGAG NP_000242.1:p.Leu481=
NM_001258281.1:c.1244_1249delinsTAAGAG NP_001245210.1:p.Leu415=
XM_005264332.2:c.1442_1447delinsTAAGAG XP_005264389.2:p.Leu481=
XM_011532867.1:c.1442_1447delinsTAAGAG XP_011531169.1:p.Leu481=
XR_939685.1:n.1514_1519delinsTAAGAG
XM_005264332.4:c.1442_1447delinsTAAGAG XP_005264389.2:p.Leu481=
XM_011532867.2:c.1442_1447delinsTAAGAG XP_011531169.1:p.Leu481=
XR_001738747.2:n.1504_1509delinsTAAGAG
XR_939685.2:n.1504_1509delinsTAAGAG
NM_000251.3:c.1442_1447delinsTAAGAG MANE Select NP_000242.1:p.Leu481=