Canonical Allele Identifier: CA915948121

Gene: EXT2

Linked Data

• ClinVar Variation Id: 817826
• ClinVar RCV Id: RCV001009047
• dbSNP Id: rs1590548183

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44108154_44108167del , CM000673.2:g.44108154_44108167del	GRCh38
NC_000011.9:g.44129704_44129717del , CM000673.1:g.44129704_44129717del	GRCh37
NC_000011.8:g.44086280_44086293del	NCBI36
NG_007560.1:g.17606_17619del , LRG_494:g.17606_17619del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.442_455del	ENSP00000342656.3:p.Asn148ValfsTer9
ENST00000395673.8:c.442_455del	ENSP00000379032.4:p.Asn148ValfsTer9
ENST00000531161.6:n.601_614del
ENST00000682359.1:c.442_455del	ENSP00000508226.1:p.Asn148ValfsTer9
ENST00000682711.1:c.-544+12302_-544+12315del	ENSP00000506803.1:n.-544+12302_-544+12315del
ENST00000682815.1:c.442_455del	ENSP00000507234.1:p.Asn148ValfsTer9
ENST00000682947.1:n.616_629del
ENST00000682993.1:c.442_455del	ENSP00000507580.1:p.Asn148ValfsTer9
ENST00000683000.1:c.442_455del	ENSP00000508361.1:p.Asn148ValfsTer9
ENST00000683299.1:n.859_872del
ENST00000683870.1:c.442_455del	ENSP00000507922.1:p.Asn148ValfsTer9
ENST00000683881.1:n.3003_3016del
ENST00000684039.1:c.442_455del	ENSP00000507677.1:p.Asn148ValfsTer9
ENST00000684124.1:c.442_455del	ENSP00000508332.1:p.Asn148ValfsTer9
ENST00000684533.1:c.442_455del	ENSP00000507915.1:p.Asn148ValfsTer9
ENST00000533608.7:c.442_455del MANE Select	ENSP00000431173.2:p.Asn148ValfsTer9
ENST00000343631.3:c.442_455del	ENSP00000342656.3:p.Asn148ValfsTer9
ENST00000358681.8:c.442_455del	ENSP00000351509.4:p.Asn148ValfsTer9
ENST00000395673.7:c.541_554del	ENSP00000379032.3:p.Asn181ValfsTer9
ENST00000529186.1:n.140_153del
ENST00000533608.5:c.442_455del	ENSP00000431173.1:p.Asn148ValfsTer9
NM_000401.3:c.541_554del , LRG_494t1:c.541_554del	NP_000392.3:p.Asn181ValfsTer9
NM_001178083.1:c.442_455del	NP_001171554.1:p.Asn148ValfsTer9
NM_207122.1:c.442_455del , LRG_494t2:c.442_455del	NP_997005.1:p.Asn148ValfsTer9
XM_011519950.1:c.580_593del	XP_011518252.1:p.Asn194ValfsTer9
XM_011519951.1:c.481_494del	XP_011518253.1:p.Asn161ValfsTer9
XM_024448383.1:c.580_593del	XP_024304151.1:p.Asn194ValfsTer9
NM_001178083.2:c.442_455del	NP_001171554.1:p.Asn148ValfsTer9
NM_207122.2:c.442_455del MANE Select	NP_997005.1:p.Asn148ValfsTer9
NM_001178083.3:c.442_455del	NP_001171554.1:p.Asn148ValfsTer9
NM_001389628.1:c.442_455del	NP_001376557.1:p.Asn148ValfsTer9
NM_001389630.1:c.442_455del	NP_001376559.1:p.Asn148ValfsTer9