Canonical Allele Identifier: CA1097049441
Gene: TTLL2 HGNC NCBI

Linked Data

dbSNP Id: rs1779099841
gnomAD v3: 6-167341630-AAAG-A
gnomAD v4: 6-167341630-AAAG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341633_167341635del , CM000668.2:g.167341633_167341635del GRCh38
NC_000006.11:g.167755121_167755123del , CM000668.1:g.167755121_167755123del GRCh37
NC_000006.10:g.167675111_167675113del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1733_1735del MANE Select ENSP00000239587.5:p.Arg578del
ENST00000649884.1:c.1514_1516del ENSP00000497040.1:p.Arg505del
ENST00000239587.9:c.1733_1735del ENSP00000239587.5:p.Arg578del
ENST00000515138.1:c.1733_1735del ENSP00000424130.1:p.Arg578del
NM_031949.4:c.1733_1735del NP_114155.4:p.Arg578del
XM_006715572.2:c.1514_1516del XP_006715635.1:p.Arg505del
XM_006715572.4:c.1514_1516del XP_006715635.1:p.Arg505del
NM_031949.5:c.1733_1735del MANE Select NP_114155.4:p.Arg578del
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Search 100 bp 3'