Canonical Allele Identifier: CA366425229
Gene: TTLL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341647C>G , CM000668.2:g.167341647C>G GRCh38
NC_000006.11:g.167755135C>G , CM000668.1:g.167755135C>G GRCh37
NC_000006.10:g.167675125C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1747C>G MANE Select ENSP00000239587.5:p.Leu583Val
ENST00000649884.1:c.1528C>G ENSP00000497040.1:p.Leu510Val
ENST00000239587.9:c.1747C>G ENSP00000239587.5:p.Leu583Val
ENST00000515138.1:c.1747C>G ENSP00000424130.1:p.Leu583Val
NM_031949.4:c.1747C>G NP_114155.4:p.Leu583Val
XM_006715572.2:c.1528C>G XP_006715635.1:p.Leu510Val
XM_006715572.4:c.1528C>G XP_006715635.1:p.Leu510Val
NM_031949.5:c.1747C>G MANE Select NP_114155.4:p.Leu583Val