Canonical Allele Identifier: CA2695213767

Gene: EXT2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44107912dup , CM000673.2:g.44107912dup	GRCh38
NC_000011.9:g.44129462dup , CM000673.1:g.44129462dup	GRCh37
NC_000011.8:g.44086038dup	NCBI36
NG_007560.1:g.17364dup , LRG_494:g.17364dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.200dup	ENSP00000342656.3:p.Val68GlyfsTer3
ENST00000395673.8:c.200dup	ENSP00000379032.4:p.Val68GlyfsTer3
ENST00000531161.6:n.359dup
ENST00000682359.1:c.200dup	ENSP00000508226.1:p.Val68GlyfsTer3
ENST00000682711.1:c.-544+12060dup	ENSP00000506803.1:n.-544+12060dup
ENST00000682815.1:c.200dup	ENSP00000507234.1:p.Val68GlyfsTer3
ENST00000682947.1:n.374dup
ENST00000682993.1:c.200dup	ENSP00000507580.1:p.Val68GlyfsTer3
ENST00000683000.1:c.200dup	ENSP00000508361.1:p.Val68GlyfsTer3
ENST00000683299.1:n.617dup
ENST00000683870.1:c.200dup	ENSP00000507922.1:p.Val68GlyfsTer3
ENST00000683881.1:n.2761dup
ENST00000684039.1:c.200dup	ENSP00000507677.1:p.Val68GlyfsTer3
ENST00000684124.1:c.200dup	ENSP00000508332.1:p.Val68GlyfsTer3
ENST00000684533.1:c.200dup	ENSP00000507915.1:p.Val68GlyfsTer3
ENST00000533608.7:c.200dup MANE Select	ENSP00000431173.2:p.Val68GlyfsTer3
ENST00000343631.3:c.200dup	ENSP00000342656.3:p.Val68GlyfsTer3
ENST00000358681.8:c.200dup	ENSP00000351509.4:p.Val68GlyfsTer3
ENST00000395673.7:c.299dup	ENSP00000379032.3:p.Val101GlyfsTer3
ENST00000527014.1:c.200dup	ENSP00000434716.1:p.Val68GlyfsTer3
ENST00000533608.5:c.200dup	ENSP00000431173.1:p.Val68GlyfsTer3
NM_000401.3:c.299dup , LRG_494t1:c.299dup	NP_000392.3:p.Val101GlyfsTer3
NM_001178083.1:c.200dup	NP_001171554.1:p.Val68GlyfsTer3
NM_207122.1:c.200dup , LRG_494t2:c.200dup	NP_997005.1:p.Val68GlyfsTer3
XM_011519950.1:c.338dup	XP_011518252.1:p.Val114GlyfsTer3
XM_011519951.1:c.239dup	XP_011518253.1:p.Val81GlyfsTer3
XM_024448383.1:c.338dup	XP_024304151.1:p.Val114GlyfsTer3
NM_001178083.2:c.200dup	NP_001171554.1:p.Val68GlyfsTer3
NM_207122.2:c.200dup MANE Select	NP_997005.1:p.Val68GlyfsTer3
NM_001178083.3:c.200dup	NP_001171554.1:p.Val68GlyfsTer3
NM_001389628.1:c.200dup	NP_001376557.1:p.Val68GlyfsTer3
NM_001389630.1:c.200dup	NP_001376559.1:p.Val68GlyfsTer3