Canonical Allele Identifier: CA366423924
Gene: TTLL2 HGNC NCBI

Linked Data

dbSNP Id: rs2115227291

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341047T>C , CM000668.2:g.167341047T>C GRCh38
NC_000006.11:g.167754535T>C , CM000668.1:g.167754535T>C GRCh37
NC_000006.10:g.167674525T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1147T>C MANE Select ENSP00000239587.5:p.Trp383Arg
ENST00000649884.1:c.928T>C ENSP00000497040.1:p.Trp310Arg
ENST00000239587.9:c.1147T>C ENSP00000239587.5:p.Trp383Arg
ENST00000515138.1:c.1147T>C ENSP00000424130.1:p.Trp383Arg
NM_031949.4:c.1147T>C NP_114155.4:p.Trp383Arg
XM_006715572.2:c.928T>C XP_006715635.1:p.Trp310Arg
XM_006715572.4:c.928T>C XP_006715635.1:p.Trp310Arg
NM_031949.5:c.1147T>C MANE Select NP_114155.4:p.Trp383Arg