Canonical Allele Identifier: CA9073392
Community Standard Title: NM_003260.5(TLE2):c.2114G>A (p.Ser705Asn)
Gene: TLE2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3000657C>T , CM000681.2:g.3000657C>T GRCh38
NC_000019.9:g.3000655C>T , CM000681.1:g.3000655C>T GRCh37
NC_000019.8:g.2951655C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_003260.5:c.2114G>A MANE Select NP_003251.2:p.Ser705Asn
ENST00000262953.11:c.2114G>A MANE Select ENSP00000262953.5:p.Ser705Asn
NM_001144761.1:c.2089+1696G>A NP_001138233.1:n.2089+1696G>A
NM_001144761.2:c.2089+1696G>A NP_001138233.1:n.2089+1696G>A
NM_001144762.1:c.1748G>A NP_001138234.1:p.Ser583Asn
NM_001144762.2:c.1748G>A NP_001138234.1:p.Ser583Asn
NM_001300846.1:c.2117G>A NP_001287775.1:p.Ser706Asn
NM_001300846.2:c.2117G>A NP_001287775.1:p.Ser706Asn
NM_003260.4:c.2114G>A NP_003251.2:p.Ser705Asn
ENST00000262953.10:c.2114G>A ENSP00000262953.5:p.Ser705Asn
ENST00000426948.6:c.2089+1696G>A ENSP00000392869.2:n.2089+1696G>A
ENST00000443826.7:c.1748G>A ENSP00000392427.2:p.Ser583Asn
ENST00000455444.6:c.1748G>A ENSP00000413107.2:p.Ser583Asn
ENST00000586422.5:c.257-2895G>A ENSP00000465519.1:n.257-2895G>A
ENST00000590536.5:c.2117G>A ENSP00000466542.1:p.Ser706Asn
ENST00000591529.5:c.2089+1696G>A ENSP00000468279.1:n.2089+1696G>A
XM_005259637.2:c.1838G>A XP_005259694.1:p.Ser613Asn
XM_006722864.2:c.2050+1696G>A XP_006722927.1:n.2050+1696G>A
XM_011528230.1:c.2081G>A XP_011526532.1:p.Ser694Asn