Canonical Allele Identifier: CA366423952
Gene: TTLL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341059G>C , CM000668.2:g.167341059G>C GRCh38
NC_000006.11:g.167754547G>C , CM000668.1:g.167754547G>C GRCh37
NC_000006.10:g.167674537G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1159G>C MANE Select ENSP00000239587.5:p.Val387Leu
ENST00000649884.1:c.940G>C ENSP00000497040.1:p.Val314Leu
ENST00000239587.9:c.1159G>C ENSP00000239587.5:p.Val387Leu
ENST00000515138.1:c.1159G>C ENSP00000424130.1:p.Val387Leu
NM_031949.4:c.1159G>C NP_114155.4:p.Val387Leu
XM_006715572.2:c.940G>C XP_006715635.1:p.Val314Leu
XM_006715572.4:c.940G>C XP_006715635.1:p.Val314Leu
NM_031949.5:c.1159G>C MANE Select NP_114155.4:p.Val387Leu