Canonical Allele Identifier: CA1097049337

Gene: TTLL2

Linked Data

• dbSNP Id: rs1779086882
• gnomAD v3: 6-167341167-GA-G
• gnomAD v4: 6-167341167-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167341168del , CM000668.2:g.167341168del	GRCh38
NC_000006.11:g.167754656del , CM000668.1:g.167754656del	GRCh37
NC_000006.10:g.167674646del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239587.10:c.1268del MANE Select	ENSP00000239587.5:p.Glu423GlyfsTer?
ENST00000649884.1:c.1049del	ENSP00000497040.1:p.Glu350GlyfsTer?
ENST00000239587.9:c.1268del	ENSP00000239587.5:p.Glu423GlyfsTer?
ENST00000515138.1:c.1268del	ENSP00000424130.1:p.Glu423GlyfsTer?
NM_031949.4:c.1268del	NP_114155.4:p.Glu423GlyfsTer?
XM_006715572.2:c.1049del	XP_006715635.1:p.Glu350GlyfsTer?
XM_006715572.4:c.1049del	XP_006715635.1:p.Glu350GlyfsTer?
NM_031949.5:c.1268del MANE Select	NP_114155.4:p.Glu423GlyfsTer?