Canonical Allele Identifier: CA1680341956
Gene: TTLL2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341125_167341128delinsCATG , CM000668.2:g.167341125_167341128delinsCATG GRCh38
NC_000006.11:g.167754613_167754616delinsCATG , CM000668.1:g.167754613_167754616delinsCATG GRCh37
NC_000006.10:g.167674603_167674606delinsCATG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1225_1228delinsCATG MANE Select ENSP00000239587.5:p.His409=
ENST00000649884.1:c.1006_1009delinsCATG ENSP00000497040.1:p.His336=
ENST00000239587.9:c.1225_1228delinsCATG ENSP00000239587.5:p.His409=
ENST00000515138.1:c.1225_1228delinsCATG ENSP00000424130.1:p.His409=
NM_031949.4:c.1225_1228delinsCATG NP_114155.4:p.His409=
XM_006715572.2:c.1006_1009delinsCATG XP_006715635.1:p.His336=
XM_006715572.4:c.1006_1009delinsCATG XP_006715635.1:p.His336=
NM_031949.5:c.1225_1228delinsCATG MANE Select NP_114155.4:p.His409=
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