Canonical Allele Identifier: CA2681211341
Gene: TTLL2 HGNC NCBI

Linked Data

gnomAD v4: 6-167341178-AGCCAGTAAT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341183_167341191del , CM000668.2:g.167341183_167341191del GRCh38
NC_000006.11:g.167754671_167754679del , CM000668.1:g.167754671_167754679del GRCh37
NC_000006.10:g.167674661_167674669del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1283_1291del MANE Select ENSP00000239587.5:p.Ser428_Ala430del
ENST00000649884.1:c.1064_1072del ENSP00000497040.1:p.Ser355_Ala357del
ENST00000239587.9:c.1283_1291del ENSP00000239587.5:p.Ser428_Ala430del
ENST00000515138.1:c.1283_1291del ENSP00000424130.1:p.Ser428_Ala430del
NM_031949.4:c.1283_1291del NP_114155.4:p.Ser428_Ala430del
XM_006715572.2:c.1064_1072del XP_006715635.1:p.Ser355_Ala357del
XM_006715572.4:c.1064_1072del XP_006715635.1:p.Ser355_Ala357del
NM_031949.5:c.1283_1291del MANE Select NP_114155.4:p.Ser428_Ala430del
Search 100 bp 5'
Search 100 bp 3'