Canonical Allele Identifier: CA2613200764

Gene: EXT2

Linked Data

• gnomAD v4: 11-44107721-G-GTCGGTCAAGTATAATATCCGGGGTCCTGCCCTCATCCCAAGAATGAAGACCAAGCACCGAATCTACTA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44107723_44107790dup , CM000673.2:g.44107723_44107790dup	GRCh38
NC_000011.9:g.44129273_44129340dup , CM000673.1:g.44129273_44129340dup	GRCh37
NC_000011.8:g.44085849_44085916dup	NCBI36
NG_007560.1:g.17175_17242dup , LRG_494:g.17175_17242dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000343631.4:c.11_78dup	ENSP00000342656.3:p.Ile27ArgfsTer15
ENST00000395673.8:c.11_78dup	ENSP00000379032.4:p.Ile27ArgfsTer15
ENST00000531161.6:n.170_237dup
ENST00000682359.1:c.11_78dup	ENSP00000508226.1:p.Ile27ArgfsTer15
ENST00000682711.1:c.-544+11871_-544+11938dup	ENSP00000506803.1:n.-544+11871_-544+11938...
ENST00000682815.1:c.11_78dup	ENSP00000507234.1:p.Ile27ArgfsTer15
ENST00000682947.1:n.185_252dup
ENST00000682993.1:c.11_78dup	ENSP00000507580.1:p.Ile27ArgfsTer15
ENST00000683000.1:c.11_78dup	ENSP00000508361.1:p.Ile27ArgfsTer15
ENST00000683299.1:n.428_495dup
ENST00000683870.1:c.11_78dup	ENSP00000507922.1:p.Ile27ArgfsTer15
ENST00000683881.1:n.2572_2639dup
ENST00000684039.1:c.11_78dup	ENSP00000507677.1:p.Ile27ArgfsTer15
ENST00000684124.1:c.11_78dup	ENSP00000508332.1:p.Ile27ArgfsTer15
ENST00000684533.1:c.11_78dup	ENSP00000507915.1:p.Ile27ArgfsTer15
ENST00000533608.7:c.11_78dup MANE Select	ENSP00000431173.2:p.Ile27ArgfsTer15
ENST00000343631.3:c.11_78dup	ENSP00000342656.3:p.Ile27ArgfsTer15
ENST00000358681.8:c.11_78dup	ENSP00000351509.4:p.Ile27ArgfsTer15
ENST00000395673.7:c.110_177dup	ENSP00000379032.3:p.Ile60ArgfsTer15
ENST00000527014.1:c.11_78dup	ENSP00000434716.1:p.Ile27ArgfsTer15
ENST00000532479.1:c.11_78dup	ENSP00000433827.1:p.Ile27ArgfsTer15
ENST00000533608.5:c.11_78dup	ENSP00000431173.1:p.Ile27ArgfsTer15
NM_000401.3:c.110_177dup , LRG_494t1:c.110_177dup	NP_000392.3:p.Ile60ArgfsTer15
NM_001178083.1:c.11_78dup	NP_001171554.1:p.Ile27ArgfsTer15
NM_207122.1:c.11_78dup , LRG_494t2:c.11_78dup	NP_997005.1:p.Ile27ArgfsTer15
XM_011519950.1:c.149_216dup	XP_011518252.1:p.Ile73ArgfsTer15
XM_011519951.1:c.50_117dup	XP_011518253.1:p.Ile40ArgfsTer15
XM_024448383.1:c.149_216dup	XP_024304151.1:p.Ile73ArgfsTer15
NM_001178083.2:c.11_78dup	NP_001171554.1:p.Ile27ArgfsTer15
NM_207122.2:c.11_78dup MANE Select	NP_997005.1:p.Ile27ArgfsTer15
NM_001178083.3:c.11_78dup	NP_001171554.1:p.Ile27ArgfsTer15
NM_001389628.1:c.11_78dup	NP_001376557.1:p.Ile27ArgfsTer15
NM_001389630.1:c.11_78dup	NP_001376559.1:p.Ile27ArgfsTer15