Canonical Allele Identifier: CA2773968275

Gene: TTLL2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167341643_167341644insACACACCCAACACA , CM000668.2:g.167341643_167341644insACACACCCAACACA	GRCh38
NC_000006.11:g.167755131_167755132insACACACCCAACACA , CM000668.1:g.167755131_167755132insACACACCCAACACA	GRCh37
NC_000006.10:g.167675121_167675122insACACACCCAACACA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239587.10:c.1743_1744insACACACCCAACACA MANE Select	ENSP00000239587.5:p.Glu582ThrfsTer10
ENST00000649884.1:c.1524_1525insACACACCCAACACA	ENSP00000497040.1:p.Glu509ThrfsTer10
ENST00000239587.9:c.1743_1744insACACACCCAACACA	ENSP00000239587.5:p.Glu582ThrfsTer10
ENST00000515138.1:c.1743_1744insACACACCCAACACA	ENSP00000424130.1:p.Glu582ThrfsTer10
NM_031949.4:c.1743_1744insACACACCCAACACA	NP_114155.4:p.Glu582ThrfsTer10
XM_006715572.2:c.1524_1525insACACACCCAACACA	XP_006715635.1:p.Glu509ThrfsTer10
XM_006715572.4:c.1524_1525insACACACCCAACACA	XP_006715635.1:p.Glu509ThrfsTer10
NM_031949.5:c.1743_1744insACACACCCAACACA MANE Select	NP_114155.4:p.Glu582ThrfsTer10