Canonical Allele Identifier: CA4097591

Gene: TTLL2

Linked Data

• dbSNP Id: rs779283642
• ExAC: 6:167755089 C / T
• gnomAD v2: 6-167755089-C-T
• gnomAD v3: 6-167341601-C-T
• gnomAD v4: 6-167341601-C-T
• MyVariant Identifiers: chr6:g.167755089C>T (hg19) ; chr6:g.167341601C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167341601C>T , CM000668.2:g.167341601C>T	GRCh38
NC_000006.11:g.167755089C>T , CM000668.1:g.167755089C>T	GRCh37
NC_000006.10:g.167675079C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239587.10:c.1701C>T MANE Select	ENSP00000239587.5:p.Leu567=
ENST00000649884.1:c.1482C>T	ENSP00000497040.1:p.Leu494=
ENST00000239587.9:c.1701C>T	ENSP00000239587.5:p.Leu567=
ENST00000515138.1:c.1701C>T	ENSP00000424130.1:p.Leu567=
NM_031949.4:c.1701C>T	NP_114155.4:p.Leu567=
XM_006715572.2:c.1482C>T	XP_006715635.1:p.Leu494=
XM_006715572.4:c.1482C>T	XP_006715635.1:p.Leu494=
NM_031949.5:c.1701C>T MANE Select	NP_114155.4:p.Leu567=