Canonical Allele Identifier: CA9073836
Community Standard Title: NM_003260.5(TLE2):c.946G>C (p.Gly316Arg)
Gene: TLE2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3011088C>G , CM000681.2:g.3011088C>G GRCh38
NC_000019.9:g.3011086C>G , CM000681.1:g.3011086C>G GRCh37
NC_000019.8:g.2962086C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_003260.5:c.946G>C MANE Select NP_003251.2:p.Gly316Arg
ENST00000262953.11:c.946G>C MANE Select ENSP00000262953.5:p.Gly316Arg
NM_001144761.1:c.988G>C NP_001138233.1:p.Gly330Arg
NM_001144761.2:c.988G>C NP_001138233.1:p.Gly330Arg
NM_001144762.1:c.580G>C NP_001138234.1:p.Gly194Arg
NM_001144762.2:c.580G>C NP_001138234.1:p.Gly194Arg
NM_001300846.1:c.949G>C NP_001287775.1:p.Gly317Arg
NM_001300846.2:c.949G>C NP_001287775.1:p.Gly317Arg
NM_003260.4:c.946G>C NP_003251.2:p.Gly316Arg
ENST00000262953.10:c.946G>C ENSP00000262953.5:p.Gly316Arg
ENST00000426948.6:c.988G>C ENSP00000392869.2:p.Gly330Arg
ENST00000443826.7:c.580G>C ENSP00000392427.2:p.Gly194Arg
ENST00000455444.6:c.580G>C ENSP00000413107.2:p.Gly194Arg
ENST00000586422.5:c.256+8324G>C ENSP00000465519.1:n.256+8324G>C
ENST00000587672.5:n.574G>C
ENST00000589205.5:n.466G>C
ENST00000589364.5:c.84-1511G>C
ENST00000590536.5:c.949G>C ENSP00000466542.1:p.Gly317Arg
ENST00000591529.5:c.988G>C ENSP00000468279.1:p.Gly330Arg
XM_005259637.2:c.670G>C XP_005259694.1:p.Gly224Arg
XM_006722864.2:c.949G>C XP_006722927.1:p.Gly317Arg
XM_011528230.1:c.949G>C XP_011526532.1:p.Gly317Arg