Canonical Allele Identifier: CA366425000
Gene: TTLL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341543C>T , CM000668.2:g.167341543C>T GRCh38
NC_000006.11:g.167755031C>T , CM000668.1:g.167755031C>T GRCh37
NC_000006.10:g.167675021C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1643C>T MANE Select ENSP00000239587.5:p.Ala548Val
ENST00000649884.1:c.1424C>T ENSP00000497040.1:p.Ala475Val
ENST00000239587.9:c.1643C>T ENSP00000239587.5:p.Ala548Val
ENST00000515138.1:c.1643C>T ENSP00000424130.1:p.Ala548Val
NM_031949.4:c.1643C>T NP_114155.4:p.Ala548Val
XM_006715572.2:c.1424C>T XP_006715635.1:p.Ala475Val
XM_006715572.4:c.1424C>T XP_006715635.1:p.Ala475Val
NM_031949.5:c.1643C>T MANE Select NP_114155.4:p.Ala548Val