Canonical Allele Identifier: CA366424019
Gene: TTLL2 HGNC NCBI

Linked Data

dbSNP Id: rs1779084971

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341090G>A , CM000668.2:g.167341090G>A GRCh38
NC_000006.11:g.167754578G>A , CM000668.1:g.167754578G>A GRCh37
NC_000006.10:g.167674568G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1190G>A MANE Select ENSP00000239587.5:p.Cys397Tyr
ENST00000649884.1:c.971G>A ENSP00000497040.1:p.Cys324Tyr
ENST00000239587.9:c.1190G>A ENSP00000239587.5:p.Cys397Tyr
ENST00000515138.1:c.1190G>A ENSP00000424130.1:p.Cys397Tyr
NM_031949.4:c.1190G>A NP_114155.4:p.Cys397Tyr
XM_006715572.2:c.971G>A XP_006715635.1:p.Cys324Tyr
XM_006715572.4:c.971G>A XP_006715635.1:p.Cys324Tyr
NM_031949.5:c.1190G>A MANE Select NP_114155.4:p.Cys397Tyr