Canonical Allele Identifier: CA366424839
Gene: TTLL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341466G>T , CM000668.2:g.167341466G>T GRCh38
NC_000006.11:g.167754954G>T , CM000668.1:g.167754954G>T GRCh37
NC_000006.10:g.167674944G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1566G>T MANE Select ENSP00000239587.5:p.Met522Ile
ENST00000649884.1:c.1347G>T ENSP00000497040.1:p.Met449Ile
ENST00000239587.9:c.1566G>T ENSP00000239587.5:p.Met522Ile
ENST00000515138.1:c.1566G>T ENSP00000424130.1:p.Met522Ile
NM_031949.4:c.1566G>T NP_114155.4:p.Met522Ile
XM_006715572.2:c.1347G>T XP_006715635.1:p.Met449Ile
XM_006715572.4:c.1347G>T XP_006715635.1:p.Met449Ile
NM_031949.5:c.1566G>T MANE Select NP_114155.4:p.Met522Ile