Canonical Allele Identifier: CA2695213855

Gene: EXT2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44124890dup , CM000673.2:g.44124890dup	GRCh38
NC_000011.9:g.44146440dup , CM000673.1:g.44146440dup	GRCh37
NC_000011.8:g.44103016dup	NCBI36
NG_007560.1:g.34342dup , LRG_494:g.34342dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.845dup	ENSP00000342656.3:p.Leu283ThrfsTer3
ENST00000395673.8:c.845dup	ENSP00000379032.4:p.Leu283ThrfsTer3
ENST00000531161.6:n.1004dup
ENST00000682359.1:c.845dup	ENSP00000508226.1:p.Leu283ThrfsTer3
ENST00000682711.1:c.-544+29038dup	ENSP00000506803.1:n.-544+29038dup
ENST00000682815.1:c.845dup	ENSP00000507234.1:p.Leu283ThrfsTer3
ENST00000682947.1:n.1019dup
ENST00000682993.1:c.845dup	ENSP00000507580.1:p.Leu283ThrfsTer3
ENST00000683000.1:c.845dup	ENSP00000508361.1:p.Leu283ThrfsTer3
ENST00000683299.1:n.1262dup
ENST00000683870.1:c.845dup	ENSP00000507922.1:p.Leu283ThrfsTer3
ENST00000683881.1:n.3406dup
ENST00000684039.1:c.845dup	ENSP00000507677.1:p.Leu283ThrfsTer3
ENST00000684124.1:c.845dup	ENSP00000508332.1:p.Leu283ThrfsTer3
ENST00000684533.1:c.744-5155dup	ENSP00000507915.1:n.744-5155dup
ENST00000533608.7:c.845dup MANE Select	ENSP00000431173.2:p.Leu283ThrfsTer3
ENST00000343631.3:c.845dup	ENSP00000342656.3:p.Leu283ThrfsTer3
ENST00000358681.8:c.845dup	ENSP00000351509.4:p.Leu283ThrfsTer3
ENST00000395673.7:c.944dup	ENSP00000379032.3:p.Leu316ThrfsTer3
ENST00000531161.5:n.22dup
ENST00000533608.5:c.845dup	ENSP00000431173.1:p.Leu283ThrfsTer3
NM_000401.3:c.944dup , LRG_494t1:c.944dup	NP_000392.3:p.Leu316ThrfsTer3
NM_001178083.1:c.845dup	NP_001171554.1:p.Leu283ThrfsTer3
NM_207122.1:c.845dup , LRG_494t2:c.845dup	NP_997005.1:p.Leu283ThrfsTer3
XM_011519950.1:c.983dup	XP_011518252.1:p.Leu329ThrfsTer3
XM_011519951.1:c.884dup	XP_011518253.1:p.Leu296ThrfsTer3
XM_024448383.1:c.983dup	XP_024304151.1:p.Leu329ThrfsTer3
NM_001178083.2:c.845dup	NP_001171554.1:p.Leu283ThrfsTer3
NM_207122.2:c.845dup MANE Select	NP_997005.1:p.Leu283ThrfsTer3
NM_001178083.3:c.845dup	NP_001171554.1:p.Leu283ThrfsTer3
NM_001389628.1:c.845dup	NP_001376557.1:p.Leu283ThrfsTer3
NM_001389630.1:c.845dup	NP_001376559.1:p.Leu283ThrfsTer3