Canonical Allele Identifier: CA2573146274

Gene: EXT2

Linked Data

• ClinVar Variation Id: 1454141
• ClinVar RCV Id: RCV001939416
• dbSNP Id: rs2134965481

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44107801del , CM000673.2:g.44107801del	GRCh38
NC_000011.9:g.44129351del , CM000673.1:g.44129351del	GRCh37
NC_000011.8:g.44085927del	NCBI36
NG_007560.1:g.17253del , LRG_494:g.17253del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.89del	ENSP00000342656.3:p.Phe30SerfsTer29
ENST00000395673.8:c.89del	ENSP00000379032.4:p.Phe30SerfsTer29
ENST00000531161.6:n.248del
ENST00000682359.1:c.89del	ENSP00000508226.1:p.Phe30SerfsTer29
ENST00000682711.1:c.-544+11949del	ENSP00000506803.1:n.-544+11949del
ENST00000682815.1:c.89del	ENSP00000507234.1:p.Phe30SerfsTer29
ENST00000682947.1:n.263del
ENST00000682993.1:c.89del	ENSP00000507580.1:p.Phe30SerfsTer29
ENST00000683000.1:c.89del	ENSP00000508361.1:p.Phe30SerfsTer29
ENST00000683299.1:n.506del
ENST00000683870.1:c.89del	ENSP00000507922.1:p.Phe30SerfsTer29
ENST00000683881.1:n.2650del
ENST00000684039.1:c.89del	ENSP00000507677.1:p.Phe30SerfsTer29
ENST00000684124.1:c.89del	ENSP00000508332.1:p.Phe30SerfsTer29
ENST00000684533.1:c.89del	ENSP00000507915.1:p.Phe30SerfsTer29
ENST00000533608.7:c.89del MANE Select	ENSP00000431173.2:p.Phe30SerfsTer29
ENST00000343631.3:c.89del	ENSP00000342656.3:p.Phe30SerfsTer29
ENST00000358681.8:c.89del	ENSP00000351509.4:p.Phe30SerfsTer29
ENST00000395673.7:c.188del	ENSP00000379032.3:p.Phe63SerfsTer29
ENST00000527014.1:c.89del	ENSP00000434716.1:p.Phe30SerfsTer29
ENST00000532479.1:c.89del	ENSP00000433827.1:p.Phe30SerfsTer?
ENST00000533608.5:c.89del	ENSP00000431173.1:p.Phe30SerfsTer29
NM_000401.3:c.188del , LRG_494t1:c.188del	NP_000392.3:p.Phe63SerfsTer29
NM_001178083.1:c.89del	NP_001171554.1:p.Phe30SerfsTer29
NM_207122.1:c.89del , LRG_494t2:c.89del	NP_997005.1:p.Phe30SerfsTer29
XM_011519950.1:c.227del	XP_011518252.1:p.Phe76SerfsTer29
XM_011519951.1:c.128del	XP_011518253.1:p.Phe43SerfsTer29
XM_024448383.1:c.227del	XP_024304151.1:p.Phe76SerfsTer29
NM_001178083.2:c.89del	NP_001171554.1:p.Phe30SerfsTer29
NM_207122.2:c.89del MANE Select	NP_997005.1:p.Phe30SerfsTer29
NM_001178083.3:c.89del	NP_001171554.1:p.Phe30SerfsTer29
NM_001389628.1:c.89del	NP_001376557.1:p.Phe30SerfsTer29
NM_001389630.1:c.89del	NP_001376559.1:p.Phe30SerfsTer29