Canonical Allele Identifier: CA1680342148
Gene: TTLL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341541_167341542delinsAG , CM000668.2:g.167341541_167341542delinsAG GRCh38
NC_000006.11:g.167755029_167755030delinsAG , CM000668.1:g.167755029_167755030delinsAG GRCh37
NC_000006.10:g.167675019_167675020delinsAG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1641_1642delinsAG MANE Select ENSP00000239587.5:p.Lys547=
ENST00000649884.1:c.1422_1423delinsAG ENSP00000497040.1:p.Lys474=
ENST00000239587.9:c.1641_1642delinsAG ENSP00000239587.5:p.Lys547=
ENST00000515138.1:c.1641_1642delinsAG ENSP00000424130.1:p.Lys547=
NM_031949.4:c.1641_1642delinsAG NP_114155.4:p.Lys547=
XM_006715572.2:c.1422_1423delinsAG XP_006715635.1:p.Lys474=
XM_006715572.4:c.1422_1423delinsAG XP_006715635.1:p.Lys474=
NM_031949.5:c.1641_1642delinsAG MANE Select NP_114155.4:p.Lys547=