Canonical Allele Identifier: CA366425018
Gene: TTLL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341552C>A , CM000668.2:g.167341552C>A GRCh38
NC_000006.11:g.167755040C>A , CM000668.1:g.167755040C>A GRCh37
NC_000006.10:g.167675030C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1652C>A MANE Select ENSP00000239587.5:p.Pro551His
ENST00000649884.1:c.1433C>A ENSP00000497040.1:p.Pro478His
ENST00000239587.9:c.1652C>A ENSP00000239587.5:p.Pro551His
ENST00000515138.1:c.1652C>A ENSP00000424130.1:p.Pro551His
NM_031949.4:c.1652C>A NP_114155.4:p.Pro551His
XM_006715572.2:c.1433C>A XP_006715635.1:p.Pro478His
XM_006715572.4:c.1433C>A XP_006715635.1:p.Pro478His
NM_031949.5:c.1652C>A MANE Select NP_114155.4:p.Pro551His