Canonical Allele Identifier: CA453304981
Gene: TTLL2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.167754558C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341070C>T , CM000668.2:g.167341070C>T GRCh38
NC_000006.11:g.167754558C>T , CM000668.1:g.167754558C>T GRCh37
NC_000006.10:g.167674548C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1170C>T MANE Select ENSP00000239587.5:p.Ser390=
ENST00000649884.1:c.951C>T ENSP00000497040.1:p.Ser317=
ENST00000239587.9:c.1170C>T ENSP00000239587.5:p.Ser390=
ENST00000515138.1:c.1170C>T ENSP00000424130.1:p.Ser390=
NM_031949.4:c.1170C>T NP_114155.4:p.Ser390=
XM_006715572.2:c.951C>T XP_006715635.1:p.Ser317=
XM_006715572.4:c.951C>T XP_006715635.1:p.Ser317=
NM_031949.5:c.1170C>T MANE Select NP_114155.4:p.Ser390=