Canonical Allele Identifier: CA2495873521
Gene: MSH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47476409G= , CM000664.2:g.47476409G= GRCh38
NC_000002.11:g.47703548G= , CM000664.1:g.47703548G= GRCh37
NC_000002.10:g.47557052G= NCBI36
NG_007110.2:g.78286G= , LRG_218:g.78286G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.2048G= ENSP00000495641.2:p.Gly683=
ENST00000233146.7:c.2048G= MANE Select ENSP00000233146.2:p.Gly683=
ENST00000543555.6:c.1850G= ENSP00000442697.1:p.Gly617=
ENST00000644092.1:c.*348G= ENSP00000496351.1:n.*348G=
ENST00000645339.1:c.2048G= ENSP00000496441.1:p.Gly683=
ENST00000645506.1:c.2048G= ENSP00000495455.1:p.Gly683=
ENST00000646415.1:c.2048G= ENSP00000495543.1:p.Gly683=
ENST00000233146.6:c.2048G= ENSP00000233146.2:p.Gly683=
ENST00000406134.5:c.2048G= ENSP00000384199.1:p.Gly683=
ENST00000543555.5:c.1850G= ENSP00000442697.1:p.Gly617=
ENST00000610696.4:c.*444G= ENSP00000483159.1:n.*444G=
ENST00000613514.4:c.*588G= ENSP00000484137.1:n.*588G=
ENST00000617333.3:c.*814G= ENSP00000482468.1:n.*814G=
ENST00000617938.4:c.*1020G= ENSP00000481158.1:n.*1020G=
ENST00000621359.2:c.2048G= ENSP00000481416.1:p.Gly683=
NM_000251.2:c.2048G= , LRG_218t1:c.2048G= NP_000242.1:p.Gly683=
NM_001258281.1:c.1850G= NP_001245210.1:p.Gly617=
XM_005264332.2:c.2048G= XP_005264389.2:p.Gly683=
XM_011532867.1:c.2048G= XP_011531169.1:p.Gly683=
XR_939685.1:n.2120G=
XM_005264332.4:c.2048G= XP_005264389.2:p.Gly683=
XM_011532867.2:c.2048G= XP_011531169.1:p.Gly683=
XR_001738747.2:n.2110G=
XR_939685.2:n.2110G=
NM_000251.3:c.2048G= MANE Select NP_000242.1:p.Gly683=