Canonical Allele Identifier: CA915948122

Gene: EXT2

Linked Data

• ClinVar Variation Id: 817343
• ClinVar RCV Id: RCV001008463
• dbSNP Id: rs1590548336

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44108193_44108194dup , CM000673.2:g.44108193_44108194dup	GRCh38
NC_000011.9:g.44129743_44129744dup , CM000673.1:g.44129743_44129744dup	GRCh37
NC_000011.8:g.44086319_44086320dup	NCBI36
NG_007560.1:g.17645_17646dup , LRG_494:g.17645_17646dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.481_482dup	ENSP00000342656.3:p.Asn161LysfsTer?
ENST00000395673.8:c.481_482dup	ENSP00000379032.4:p.Asn161LysfsTer?
ENST00000531161.6:n.640_641dup
ENST00000682359.1:c.481_482dup	ENSP00000508226.1:p.Asn161LysfsTer?
ENST00000682711.1:c.-544+12341_-544+12342dup	ENSP00000506803.1:n.-544+12341_-544+12342dup
ENST00000682815.1:c.481_482dup	ENSP00000507234.1:p.Asn161LysfsTer?
ENST00000682947.1:n.655_656dup
ENST00000682993.1:c.481_482dup	ENSP00000507580.1:p.Asn161LysfsTer?
ENST00000683000.1:c.481_482dup	ENSP00000508361.1:p.Asn161LysfsTer?
ENST00000683299.1:n.898_899dup
ENST00000683870.1:c.481_482dup	ENSP00000507922.1:p.Asn161LysfsTer?
ENST00000683881.1:n.3042_3043dup
ENST00000684039.1:c.481_482dup	ENSP00000507677.1:p.Asn161LysfsTer?
ENST00000684124.1:c.481_482dup	ENSP00000508332.1:p.Asn161LysfsTer?
ENST00000684533.1:c.481_482dup	ENSP00000507915.1:p.Asn161LysfsTer?
ENST00000533608.7:c.481_482dup MANE Select	ENSP00000431173.2:p.Asn161LysfsTer?
ENST00000343631.3:c.481_482dup	ENSP00000342656.3:p.Asn161LysfsTer?
ENST00000358681.8:c.481_482dup	ENSP00000351509.4:p.Asn161LysfsTer?
ENST00000395673.7:c.580_581dup	ENSP00000379032.3:p.Asn194LysfsTer?
ENST00000529186.1:n.179_180dup
ENST00000533608.5:c.481_482dup	ENSP00000431173.1:p.Asn161LysfsTer?
NM_000401.3:c.580_581dup , LRG_494t1:c.580_581dup	NP_000392.3:p.Asn194LysfsTer?
NM_001178083.1:c.481_482dup	NP_001171554.1:p.Asn161LysfsTer?
NM_207122.1:c.481_482dup , LRG_494t2:c.481_482dup	NP_997005.1:p.Asn161LysfsTer?
XM_011519950.1:c.619_620dup	XP_011518252.1:p.Asn207LysfsTer?
XM_011519951.1:c.520_521dup	XP_011518253.1:p.Asn174LysfsTer?
XM_024448383.1:c.619_620dup	XP_024304151.1:p.Asn207LysfsTer?
NM_001178083.2:c.481_482dup	NP_001171554.1:p.Asn161LysfsTer?
NM_207122.2:c.481_482dup MANE Select	NP_997005.1:p.Asn161LysfsTer?
NM_001178083.3:c.481_482dup	NP_001171554.1:p.Asn161LysfsTer?
NM_001389628.1:c.481_482dup	NP_001376557.1:p.Asn161LysfsTer?
NM_001389630.1:c.481_482dup	NP_001376559.1:p.Asn161LysfsTer?