Canonical Allele Identifier: CA4097486
Gene: TTLL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2288539
ClinVar RCV Id: RCV004141538
dbSNP Id: rs373611883
ExAC: 6:167754563 C / A
gnomAD v2: 6-167754563-C-A
gnomAD v3: 6-167341075-C-A
gnomAD v4: 6-167341075-C-A
MyVariant Identifiers: chr6:g.167754563C>A (hg19) chr6:g.167341075C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341075C>A , CM000668.2:g.167341075C>A GRCh38
NC_000006.11:g.167754563C>A , CM000668.1:g.167754563C>A GRCh37
NC_000006.10:g.167674553C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1175C>A MANE Select ENSP00000239587.5:p.Ala392Asp
ENST00000649884.1:c.956C>A ENSP00000497040.1:p.Ala319Asp
ENST00000239587.9:c.1175C>A ENSP00000239587.5:p.Ala392Asp
ENST00000515138.1:c.1175C>A ENSP00000424130.1:p.Ala392Asp
NM_031949.4:c.1175C>A NP_114155.4:p.Ala392Asp
XM_006715572.2:c.956C>A XP_006715635.1:p.Ala319Asp
XM_006715572.4:c.956C>A XP_006715635.1:p.Ala319Asp
NM_031949.5:c.1175C>A MANE Select NP_114155.4:p.Ala392Asp
Search 100 bp 5'
Search 100 bp 3'