Canonical Allele Identifier: CA366425056
Gene: TTLL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341569G>T , CM000668.2:g.167341569G>T GRCh38
NC_000006.11:g.167755057G>T , CM000668.1:g.167755057G>T GRCh37
NC_000006.10:g.167675047G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1669G>T MANE Select ENSP00000239587.5:p.Val557Phe
ENST00000649884.1:c.1450G>T ENSP00000497040.1:p.Val484Phe
ENST00000239587.9:c.1669G>T ENSP00000239587.5:p.Val557Phe
ENST00000515138.1:c.1669G>T ENSP00000424130.1:p.Val557Phe
NM_031949.4:c.1669G>T NP_114155.4:p.Val557Phe
XM_006715572.2:c.1450G>T XP_006715635.1:p.Val484Phe
XM_006715572.4:c.1450G>T XP_006715635.1:p.Val484Phe
NM_031949.5:c.1669G>T MANE Select NP_114155.4:p.Val557Phe