Canonical Allele Identifier: CA366424029
Gene: TTLL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341093C>T , CM000668.2:g.167341093C>T GRCh38
NC_000006.11:g.167754581C>T , CM000668.1:g.167754581C>T GRCh37
NC_000006.10:g.167674571C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1193C>T MANE Select ENSP00000239587.5:p.Ser398Leu
ENST00000649884.1:c.974C>T ENSP00000497040.1:p.Ser325Leu
ENST00000239587.9:c.1193C>T ENSP00000239587.5:p.Ser398Leu
ENST00000515138.1:c.1193C>T ENSP00000424130.1:p.Ser398Leu
NM_031949.4:c.1193C>T NP_114155.4:p.Ser398Leu
XM_006715572.2:c.974C>T XP_006715635.1:p.Ser325Leu
XM_006715572.4:c.974C>T XP_006715635.1:p.Ser325Leu
NM_031949.5:c.1193C>T MANE Select NP_114155.4:p.Ser398Leu