Canonical Allele Identifier: CA2681211462

Gene: TTLL2

Linked Data

• gnomAD v4: 6-167341575-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167341580del , CM000668.2:g.167341580del	GRCh38
NC_000006.11:g.167755068del , CM000668.1:g.167755068del	GRCh37
NC_000006.10:g.167675058del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239587.10:c.1680del MANE Select	ENSP00000239587.5:p.Pro561LeufsTer14
ENST00000649884.1:c.1461del	ENSP00000497040.1:p.Pro488LeufsTer14
ENST00000239587.9:c.1680del	ENSP00000239587.5:p.Pro561LeufsTer14
ENST00000515138.1:c.1680del	ENSP00000424130.1:p.Pro561LeufsTer14
NM_031949.4:c.1680del	NP_114155.4:p.Pro561LeufsTer14
XM_006715572.2:c.1461del	XP_006715635.1:p.Pro488LeufsTer14
XM_006715572.4:c.1461del	XP_006715635.1:p.Pro488LeufsTer14
NM_031949.5:c.1680del MANE Select	NP_114155.4:p.Pro561LeufsTer14