Canonical Allele Identifier: CA366425060
Gene: TTLL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3184574
ClinVar RCV Id: RCV004481443
dbSNP Id: rs1372010590
gnomAD v2: 6-167755060-C-A
gnomAD v4: 6-167341572-C-A
MyVariant Identifiers: chr6:g.167755060C>A (hg19) chr6:g.167341572C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341572C>A , CM000668.2:g.167341572C>A GRCh38
NC_000006.11:g.167755060C>A , CM000668.1:g.167755060C>A GRCh37
NC_000006.10:g.167675050C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1672C>A MANE Select ENSP00000239587.5:p.Leu558Ile
ENST00000649884.1:c.1453C>A ENSP00000497040.1:p.Leu485Ile
ENST00000239587.9:c.1672C>A ENSP00000239587.5:p.Leu558Ile
ENST00000515138.1:c.1672C>A ENSP00000424130.1:p.Leu558Ile
NM_031949.4:c.1672C>A NP_114155.4:p.Leu558Ile
XM_006715572.2:c.1453C>A XP_006715635.1:p.Leu485Ile
XM_006715572.4:c.1453C>A XP_006715635.1:p.Leu485Ile
NM_031949.5:c.1672C>A MANE Select NP_114155.4:p.Leu558Ile
Search 100 bp 5'
Search 100 bp 3'