Canonical Allele Identifier: CA366425205
Gene: TTLL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341638A>C , CM000668.2:g.167341638A>C GRCh38
NC_000006.11:g.167755126A>C , CM000668.1:g.167755126A>C GRCh37
NC_000006.10:g.167675116A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1738A>C MANE Select ENSP00000239587.5:p.Ile580Leu
ENST00000649884.1:c.1519A>C ENSP00000497040.1:p.Ile507Leu
ENST00000239587.9:c.1738A>C ENSP00000239587.5:p.Ile580Leu
ENST00000515138.1:c.1738A>C ENSP00000424130.1:p.Ile580Leu
NM_031949.4:c.1738A>C NP_114155.4:p.Ile580Leu
XM_006715572.2:c.1519A>C XP_006715635.1:p.Ile507Leu
XM_006715572.4:c.1519A>C XP_006715635.1:p.Ile507Leu
NM_031949.5:c.1738A>C MANE Select NP_114155.4:p.Ile580Leu