Canonical Allele Identifier: CA366425252
Gene: TTLL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341657T>A , CM000668.2:g.167341657T>A GRCh38
NC_000006.11:g.167755145T>A , CM000668.1:g.167755145T>A GRCh37
NC_000006.10:g.167675135T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1757T>A MANE Select ENSP00000239587.5:p.Leu586Gln
ENST00000649884.1:c.1538T>A ENSP00000497040.1:p.Leu513Gln
ENST00000239587.9:c.1757T>A ENSP00000239587.5:p.Leu586Gln
ENST00000515138.1:c.1757T>A ENSP00000424130.1:p.Leu586Gln
NM_031949.4:c.1757T>A NP_114155.4:p.Leu586Gln
XM_006715572.2:c.1538T>A XP_006715635.1:p.Leu513Gln
XM_006715572.4:c.1538T>A XP_006715635.1:p.Leu513Gln
NM_031949.5:c.1757T>A MANE Select NP_114155.4:p.Leu586Gln