Canonical Allele Identifier: CA453305170
Gene: TTLL2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.167754637T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341149T>C , CM000668.2:g.167341149T>C GRCh38
NC_000006.11:g.167754637T>C , CM000668.1:g.167754637T>C GRCh37
NC_000006.10:g.167674627T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1249T>C MANE Select ENSP00000239587.5:p.Leu417=
ENST00000649884.1:c.1030T>C ENSP00000497040.1:p.Leu344=
ENST00000239587.9:c.1249T>C ENSP00000239587.5:p.Leu417=
ENST00000515138.1:c.1249T>C ENSP00000424130.1:p.Leu417=
NM_031949.4:c.1249T>C NP_114155.4:p.Leu417=
XM_006715572.2:c.1030T>C XP_006715635.1:p.Leu344=
XM_006715572.4:c.1030T>C XP_006715635.1:p.Leu344=
NM_031949.5:c.1249T>C MANE Select NP_114155.4:p.Leu417=