Canonical Allele Identifier: CA366424806
Gene: TTLL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341450C>A , CM000668.2:g.167341450C>A GRCh38
NC_000006.11:g.167754938C>A , CM000668.1:g.167754938C>A GRCh37
NC_000006.10:g.167674928C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1550C>A MANE Select ENSP00000239587.5:p.Pro517His
ENST00000649884.1:c.1331C>A ENSP00000497040.1:p.Pro444His
ENST00000239587.9:c.1550C>A ENSP00000239587.5:p.Pro517His
ENST00000515138.1:c.1550C>A ENSP00000424130.1:p.Pro517His
NM_031949.4:c.1550C>A NP_114155.4:p.Pro517His
XM_006715572.2:c.1331C>A XP_006715635.1:p.Pro444His
XM_006715572.4:c.1331C>A XP_006715635.1:p.Pro444His
NM_031949.5:c.1550C>A MANE Select NP_114155.4:p.Pro517His