Canonical Allele Identifier: CA366425091

Gene: TTLL2

Linked Data

• ClinVar Variation Id: 2527632
• ClinVar RCV Id: RCV004300930
• gnomAD v4: 6-167341586-C-G
• MyVariant Identifiers: chr6:g.167755074C>G (hg19) ; chr6:g.167341586C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167341586C>G , CM000668.2:g.167341586C>G	GRCh38
NC_000006.11:g.167755074C>G , CM000668.1:g.167755074C>G	GRCh37
NC_000006.10:g.167675064C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239587.10:c.1686C>G MANE Select	ENSP00000239587.5:p.Phe562Leu
ENST00000649884.1:c.1467C>G	ENSP00000497040.1:p.Phe489Leu
ENST00000239587.9:c.1686C>G	ENSP00000239587.5:p.Phe562Leu
ENST00000515138.1:c.1686C>G	ENSP00000424130.1:p.Phe562Leu
NM_031949.4:c.1686C>G	NP_114155.4:p.Phe562Leu
XM_006715572.2:c.1467C>G	XP_006715635.1:p.Phe489Leu
XM_006715572.4:c.1467C>G	XP_006715635.1:p.Phe489Leu
NM_031949.5:c.1686C>G MANE Select	NP_114155.4:p.Phe562Leu