Canonical Allele Identifier: CA2681211448
Gene: TTLL2 HGNC NCBI

Linked Data

gnomAD v4: 6-167341556-AGCAG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341560_167341563del , CM000668.2:g.167341560_167341563del GRCh38
NC_000006.11:g.167755048_167755051del , CM000668.1:g.167755048_167755051del GRCh37
NC_000006.10:g.167675038_167675041del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1660_1663del MANE Select ENSP00000239587.5:p.Gly554ThrfsTer20
ENST00000649884.1:c.1441_1444del ENSP00000497040.1:p.Gly481ThrfsTer20
ENST00000239587.9:c.1660_1663del ENSP00000239587.5:p.Gly554ThrfsTer20
ENST00000515138.1:c.1660_1663del ENSP00000424130.1:p.Gly554ThrfsTer20
NM_031949.4:c.1660_1663del NP_114155.4:p.Gly554ThrfsTer20
XM_006715572.2:c.1441_1444del XP_006715635.1:p.Gly481ThrfsTer20
XM_006715572.4:c.1441_1444del XP_006715635.1:p.Gly481ThrfsTer20
NM_031949.5:c.1660_1663del MANE Select NP_114155.4:p.Gly554ThrfsTer20
Search 100 bp 5'
Search 100 bp 3'