Canonical Allele Identifier: CA453304947
Gene: TTLL2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.167754540T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341052T>G , CM000668.2:g.167341052T>G GRCh38
NC_000006.11:g.167754540T>G , CM000668.1:g.167754540T>G GRCh37
NC_000006.10:g.167674530T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1152T>G MANE Select ENSP00000239587.5:p.Leu384=
ENST00000649884.1:c.933T>G ENSP00000497040.1:p.Leu311=
ENST00000239587.9:c.1152T>G ENSP00000239587.5:p.Leu384=
ENST00000515138.1:c.1152T>G ENSP00000424130.1:p.Leu384=
NM_031949.4:c.1152T>G NP_114155.4:p.Leu384=
XM_006715572.2:c.933T>G XP_006715635.1:p.Leu311=
XM_006715572.4:c.933T>G XP_006715635.1:p.Leu311=
NM_031949.5:c.1152T>G MANE Select NP_114155.4:p.Leu384=