Canonical Allele Identifier: CA2773968272
Gene: TTLL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341110_167341111insTTACTGGCTTCTCCCCCCTCATTTCTT , CM000668.2:g.167341110_167341111insTTACTGGCTTCTCCCCCCTCATTTCTT GRCh38
NC_000006.11:g.167754598_167754599insTTACTGGCTTCTCCCCCCTCATTTCTT , CM000668.1:g.167754598_167754599insTTACTGGCTTCTCCCCCCTCATTTCTT GRCh37
NC_000006.10:g.167674588_167674589insTTACTGGCTTCTCCCCCCTCATTTCTT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1210_1211insTTACTGGCTTCTCCCCCCTCATTTCTT MANE Select ENSP00000239587.5:p.Lys404IlefsTer10
ENST00000649884.1:c.991_992insTTACTGGCTTCTCCCCCCTCATTTCTT ENSP00000497040.1:p.Lys331IlefsTer10
ENST00000239587.9:c.1210_1211insTTACTGGCTTCTCCCCCCTCATTTCTT ENSP00000239587.5:p.Lys404IlefsTer10
ENST00000515138.1:c.1210_1211insTTACTGGCTTCTCCCCCCTCATTTCTT ENSP00000424130.1:p.Lys404IlefsTer10
NM_031949.4:c.1210_1211insTTACTGGCTTCTCCCCCCTCATTTCTT NP_114155.4:p.Lys404IlefsTer10
XM_006715572.2:c.991_992insTTACTGGCTTCTCCCCCCTCATTTCTT XP_006715635.1:p.Lys331IlefsTer10
XM_006715572.4:c.991_992insTTACTGGCTTCTCCCCCCTCATTTCTT XP_006715635.1:p.Lys331IlefsTer10
NM_031949.5:c.1210_1211insTTACTGGCTTCTCCCCCCTCATTTCTT MANE Select NP_114155.4:p.Lys404IlefsTer10