Canonical Allele Identifier: CA4097565
Gene: TTLL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2366864
ClinVar RCV Id: RCV004200330
dbSNP Id: rs149385170

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341474C>T , CM000668.2:g.167341474C>T GRCh38
NC_000006.11:g.167754962C>T , CM000668.1:g.167754962C>T GRCh37
NC_000006.10:g.167674952C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1574C>T MANE Select ENSP00000239587.5:p.Ala525Val
ENST00000649884.1:c.1355C>T ENSP00000497040.1:p.Ala452Val
ENST00000239587.9:c.1574C>T ENSP00000239587.5:p.Ala525Val
ENST00000515138.1:c.1574C>T ENSP00000424130.1:p.Ala525Val
NM_031949.4:c.1574C>T NP_114155.4:p.Ala525Val
XM_006715572.2:c.1355C>T XP_006715635.1:p.Ala452Val
XM_006715572.4:c.1355C>T XP_006715635.1:p.Ala452Val
NM_031949.5:c.1574C>T MANE Select NP_114155.4:p.Ala525Val