Canonical Allele Identifier: CA1680342099
Gene: TTLL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341433_167341434delinsAC , CM000668.2:g.167341433_167341434delinsAC GRCh38
NC_000006.11:g.167754921_167754922delinsAC , CM000668.1:g.167754921_167754922delinsAC GRCh37
NC_000006.10:g.167674911_167674912delinsAC NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1533_1534delinsAC MANE Select ENSP00000239587.5:p.Leu511=
ENST00000649884.1:c.1314_1315delinsAC ENSP00000497040.1:p.Leu438=
ENST00000239587.9:c.1533_1534delinsAC ENSP00000239587.5:p.Leu511=
ENST00000515138.1:c.1533_1534delinsAC ENSP00000424130.1:p.Leu511=
NM_031949.4:c.1533_1534delinsAC NP_114155.4:p.Leu511=
XM_006715572.2:c.1314_1315delinsAC XP_006715635.1:p.Leu438=
XM_006715572.4:c.1314_1315delinsAC XP_006715635.1:p.Leu438=
NM_031949.5:c.1533_1534delinsAC MANE Select NP_114155.4:p.Leu511=