Canonical Allele Identifier: CA2580615663

Gene: EXT2

Linked Data

• ClinVar Variation Id: 2004064
• ClinVar RCV Id: RCV002811636

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44107960_44107961del , CM000673.2:g.44107960_44107961del	GRCh38
NC_000011.9:g.44129510_44129511del , CM000673.1:g.44129510_44129511del	GRCh37
NC_000011.8:g.44086086_44086087del	NCBI36
NG_007560.1:g.17412_17413del , LRG_494:g.17412_17413del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.248_249del	ENSP00000342656.3:p.Leu83GlnfsTer9
ENST00000395673.8:c.248_249del	ENSP00000379032.4:p.Leu83GlnfsTer9
ENST00000531161.6:n.407_408del
ENST00000682359.1:c.248_249del	ENSP00000508226.1:p.Leu83GlnfsTer9
ENST00000682711.1:c.-544+12108_-544+12109del	ENSP00000506803.1:n.-544+12108_-544+12109del
ENST00000682815.1:c.248_249del	ENSP00000507234.1:p.Leu83GlnfsTer9
ENST00000682947.1:n.422_423del
ENST00000682993.1:c.248_249del	ENSP00000507580.1:p.Leu83GlnfsTer9
ENST00000683000.1:c.248_249del	ENSP00000508361.1:p.Leu83GlnfsTer9
ENST00000683299.1:n.665_666del
ENST00000683870.1:c.248_249del	ENSP00000507922.1:p.Leu83GlnfsTer9
ENST00000683881.1:n.2809_2810del
ENST00000684039.1:c.248_249del	ENSP00000507677.1:p.Leu83GlnfsTer9
ENST00000684124.1:c.248_249del	ENSP00000508332.1:p.Leu83GlnfsTer9
ENST00000684533.1:c.248_249del	ENSP00000507915.1:p.Leu83GlnfsTer9
ENST00000533608.7:c.248_249del MANE Select	ENSP00000431173.2:p.Leu83GlnfsTer9
ENST00000343631.3:c.248_249del	ENSP00000342656.3:p.Leu83GlnfsTer9
ENST00000358681.8:c.248_249del	ENSP00000351509.4:p.Leu83GlnfsTer9
ENST00000395673.7:c.347_348del	ENSP00000379032.3:p.Leu116GlnfsTer9
ENST00000527014.1:c.248_249del	ENSP00000434716.1:p.Leu83GlnfsTer9
ENST00000533608.5:c.248_249del	ENSP00000431173.1:p.Leu83GlnfsTer9
NM_000401.3:c.347_348del , LRG_494t1:c.347_348del	NP_000392.3:p.Leu116GlnfsTer9
NM_001178083.1:c.248_249del	NP_001171554.1:p.Leu83GlnfsTer9
NM_207122.1:c.248_249del , LRG_494t2:c.248_249del	NP_997005.1:p.Leu83GlnfsTer9
XM_011519950.1:c.386_387del	XP_011518252.1:p.Leu129GlnfsTer9
XM_011519951.1:c.287_288del	XP_011518253.1:p.Leu96GlnfsTer9
XM_024448383.1:c.386_387del	XP_024304151.1:p.Leu129GlnfsTer9
NM_001178083.2:c.248_249del	NP_001171554.1:p.Leu83GlnfsTer9
NM_207122.2:c.248_249del MANE Select	NP_997005.1:p.Leu83GlnfsTer9
NM_001178083.3:c.248_249del	NP_001171554.1:p.Leu83GlnfsTer9
NM_001389628.1:c.248_249del	NP_001376557.1:p.Leu83GlnfsTer9
NM_001389630.1:c.248_249del	NP_001376559.1:p.Leu83GlnfsTer9