Canonical Allele Identifier: CA1680341981
Gene: TTLL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341167_167341168delinsGA , CM000668.2:g.167341167_167341168delinsGA GRCh38
NC_000006.11:g.167754655_167754656delinsGA , CM000668.1:g.167754655_167754656delinsGA GRCh37
NC_000006.10:g.167674645_167674646delinsGA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1267_1268delinsGA MANE Select ENSP00000239587.5:p.Glu423=
ENST00000649884.1:c.1048_1049delinsGA ENSP00000497040.1:p.Glu350=
ENST00000239587.9:c.1267_1268delinsGA ENSP00000239587.5:p.Glu423=
ENST00000515138.1:c.1267_1268delinsGA ENSP00000424130.1:p.Glu423=
NM_031949.4:c.1267_1268delinsGA NP_114155.4:p.Glu423=
XM_006715572.2:c.1048_1049delinsGA XP_006715635.1:p.Glu350=
XM_006715572.4:c.1048_1049delinsGA XP_006715635.1:p.Glu350=
NM_031949.5:c.1267_1268delinsGA MANE Select NP_114155.4:p.Glu423=