Canonical Allele Identifier: CA2495843684
Gene: MSH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47429873_47429874delinsAT , CM000664.2:g.47429873_47429874delinsAT GRCh38
NC_000002.11:g.47657012_47657013delinsAT , CM000664.1:g.47657012_47657013delinsAT GRCh37
NC_000002.10:g.47510516_47510517delinsAT NCBI36
NG_007110.2:g.31750_31751delinsAT , LRG_218:g.31750_31751delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.1208_1209delinsAT ENSP00000495641.2:p.Asp403=
ENST00000233146.7:c.1208_1209delinsAT MANE Select ENSP00000233146.2:p.Asp403=
ENST00000543555.6:c.1010_1011delinsAT ENSP00000442697.1:p.Asp337=
ENST00000644092.1:c.1208_1209delinsAT ENSP00000496351.1:p.Asp403=
ENST00000645339.1:c.1208_1209delinsAT ENSP00000496441.1:p.Asp403=
ENST00000645506.1:c.1208_1209delinsAT ENSP00000495455.1:p.Asp403=
ENST00000646415.1:c.1208_1209delinsAT ENSP00000495543.1:p.Asp403=
ENST00000233146.6:c.1208_1209delinsAT ENSP00000233146.2:p.Asp403=
ENST00000406134.5:c.1208_1209delinsAT ENSP00000384199.1:p.Asp403=
ENST00000543555.5:c.1010_1011delinsAT ENSP00000442697.1:p.Asp337=
ENST00000610696.4:c.1208_1209delinsAT ENSP00000483159.1:p.Asp403=
ENST00000613514.4:c.1208_1209delinsAT ENSP00000484137.1:p.Asp403=
ENST00000617333.3:c.1207_1208delinsAT ENSP00000482468.1:p.Ile403=
ENST00000617938.4:c.*180_*181delinsAT ENSP00000481158.1:n.*180_*181delinsAT
ENST00000621359.2:c.1208_1209delinsAT ENSP00000481416.1:p.Asp403=
NM_000251.2:c.1208_1209delinsAT , LRG_218t1:c.1208_1209delinsAT NP_000242.1:p.Asp403=
NM_001258281.1:c.1010_1011delinsAT NP_001245210.1:p.Asp337=
XM_005264332.2:c.1208_1209delinsAT XP_005264389.2:p.Asp403=
XM_011532867.1:c.1208_1209delinsAT XP_011531169.1:p.Asp403=
XR_939685.1:n.1280_1281delinsAT
XM_005264332.4:c.1208_1209delinsAT XP_005264389.2:p.Asp403=
XM_011532867.2:c.1208_1209delinsAT XP_011531169.1:p.Asp403=
XR_001738747.2:n.1270_1271delinsAT
XR_939685.2:n.1270_1271delinsAT
NM_000251.3:c.1208_1209delinsAT MANE Select NP_000242.1:p.Asp403=