Canonical Allele Identifier: CA366424972
Gene: TTLL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341530G>C , CM000668.2:g.167341530G>C GRCh38
NC_000006.11:g.167755018G>C , CM000668.1:g.167755018G>C GRCh37
NC_000006.10:g.167675008G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1630G>C MANE Select ENSP00000239587.5:p.Asp544His
ENST00000649884.1:c.1411G>C ENSP00000497040.1:p.Asp471His
ENST00000239587.9:c.1630G>C ENSP00000239587.5:p.Asp544His
ENST00000515138.1:c.1630G>C ENSP00000424130.1:p.Asp544His
NM_031949.4:c.1630G>C NP_114155.4:p.Asp544His
XM_006715572.2:c.1411G>C XP_006715635.1:p.Asp471His
XM_006715572.4:c.1411G>C XP_006715635.1:p.Asp471His
NM_031949.5:c.1630G>C MANE Select NP_114155.4:p.Asp544His