Canonical Allele Identifier: CA453305065
Gene: TTLL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341267_167341271del , CM000668.2:g.167341267_167341271del GRCh38
NC_000006.11:g.167754755_167754759del , CM000668.1:g.167754755_167754759del GRCh37
NC_000006.10:g.167674745_167674749del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1367_1371del MANE Select ENSP00000239587.5:p.Asp456AlafsTer12
ENST00000649884.1:c.1148_1152del ENSP00000497040.1:p.Asp383AlafsTer12
ENST00000239587.9:c.1367_1371del ENSP00000239587.5:p.Asp456AlafsTer12
ENST00000515138.1:c.1367_1371del ENSP00000424130.1:p.Asp456AlafsTer12
NM_031949.4:c.1367_1371del NP_114155.4:p.Asp456AlafsTer12
XM_006715572.2:c.1148_1152del XP_006715635.1:p.Asp383AlafsTer12
XM_006715572.4:c.1148_1152del XP_006715635.1:p.Asp383AlafsTer12
NM_031949.5:c.1367_1371del MANE Select NP_114155.4:p.Asp456AlafsTer12