Canonical Allele Identifier: CA453304930
Gene: TTLL2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.167754528G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341040G>A , CM000668.2:g.167341040G>A GRCh38
NC_000006.11:g.167754528G>A , CM000668.1:g.167754528G>A GRCh37
NC_000006.10:g.167674518G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1140G>A MANE Select ENSP00000239587.5:p.Leu380=
ENST00000649884.1:c.921G>A ENSP00000497040.1:p.Leu307=
ENST00000239587.9:c.1140G>A ENSP00000239587.5:p.Leu380=
ENST00000515138.1:c.1140G>A ENSP00000424130.1:p.Leu380=
NM_031949.4:c.1140G>A NP_114155.4:p.Leu380=
XM_006715572.2:c.921G>A XP_006715635.1:p.Leu307=
XM_006715572.4:c.921G>A XP_006715635.1:p.Leu307=
NM_031949.5:c.1140G>A MANE Select NP_114155.4:p.Leu380=