Canonical Allele Identifier: CA366424997
Gene: TTLL2 HGNC NCBI

Linked Data

dbSNP Id: rs1779098440
COSMIC: COSM3622866
MyVariant Identifiers: chr6:g.167755030G>A (hg19) chr6:g.167341542G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341542G>A , CM000668.2:g.167341542G>A GRCh38
NC_000006.11:g.167755030G>A , CM000668.1:g.167755030G>A GRCh37
NC_000006.10:g.167675020G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1642G>A MANE Select ENSP00000239587.5:p.Ala548Thr
ENST00000649884.1:c.1423G>A ENSP00000497040.1:p.Ala475Thr
ENST00000239587.9:c.1642G>A ENSP00000239587.5:p.Ala548Thr
ENST00000515138.1:c.1642G>A ENSP00000424130.1:p.Ala548Thr
NM_031949.4:c.1642G>A NP_114155.4:p.Ala548Thr
XM_006715572.2:c.1423G>A XP_006715635.1:p.Ala475Thr
XM_006715572.4:c.1423G>A XP_006715635.1:p.Ala475Thr
NM_031949.5:c.1642G>A MANE Select NP_114155.4:p.Ala548Thr
Search 100 bp 5'
Search 100 bp 3'