Canonical Allele Identifier: CA2613202482

Gene: EXT2

Linked Data

• gnomAD v4: 11-44126980-C-CTACATT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44126981_44126986dup , CM000673.2:g.44126981_44126986dup	GRCh38
NC_000011.9:g.44148531_44148536dup , CM000673.1:g.44148531_44148536dup	GRCh37
NC_000011.8:g.44105107_44105112dup	NCBI36
NG_007560.1:g.36433_36438dup , LRG_494:g.36433_36438dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.1079+26_1079+31dup	ENSP00000342656.3:n.1079+26_1079+31dup
ENST00000395673.8:c.1079+26_1079+31dup	ENSP00000379032.4:n.1079+26_1079+31dup
ENST00000531161.6:n.1238+26_1238+31dup
ENST00000682359.1:c.939+1997_939+2002dup	ENSP00000508226.1:n.939+1997_939+2002dup
ENST00000682711.1:c.-544+31129_-544+31134dup	ENSP00000506803.1:n.-544+31129_-544+31134dup
ENST00000682815.1:c.1079+26_1079+31dup	ENSP00000507234.1:n.1079+26_1079+31dup
ENST00000682947.1:n.1253+26_1253+31dup
ENST00000682993.1:c.1079+26_1079+31dup	ENSP00000507580.1:n.1079+26_1079+31dup
ENST00000683000.1:c.1079+26_1079+31dup	ENSP00000508361.1:n.1079+26_1079+31dup
ENST00000683299.1:n.1496+26_1496+31dup
ENST00000683870.1:c.1079+26_1079+31dup	ENSP00000507922.1:n.1079+26_1079+31dup
ENST00000683881.1:n.3640+26_3640+31dup
ENST00000684039.1:c.1079+26_1079+31dup	ENSP00000507677.1:n.1079+26_1079+31dup
ENST00000684124.1:c.1079+26_1079+31dup	ENSP00000508332.1:n.1079+26_1079+31dup
ENST00000684533.1:c.744-3064_744-3059dup	ENSP00000507915.1:n.744-3064_744-3059dup
ENST00000533608.7:c.1079+26_1079+31dup MANE Select	ENSP00000431173.2:n.1079+26_1079+31dup
ENST00000343631.3:c.1079+26_1079+31dup	ENSP00000342656.3:n.1079+26_1079+31dup
ENST00000358681.8:c.1079+26_1079+31dup	ENSP00000351509.4:n.1079+26_1079+31dup
ENST00000395673.7:c.1178+26_1178+31dup	ENSP00000379032.3:n.1178+26_1178+31dup
ENST00000525559.1:n.53+26_53+31dup
ENST00000531161.5:n.256+26_256+31dup
ENST00000533608.5:c.1079+26_1079+31dup	ENSP00000431173.1:n.1079+26_1079+31dup
NM_000401.3:c.1178+26_1178+31dup , LRG_494t1:c.1178+26_1178+31dup	NP_000392.3:n.1178+26_1178+31dup
NM_001178083.1:c.1079+26_1079+31dup	NP_001171554.1:n.1079+26_1079+31dup
NM_207122.1:c.1079+26_1079+31dup , LRG_494t2:c.1079+26_1079+31dup	NP_997005.1:n.1079+26_1079+31dup
XM_011519950.1:c.1217+26_1217+31dup	XP_011518252.1:n.1217+26_1217+31dup
XM_011519951.1:c.1118+26_1118+31dup	XP_011518253.1:n.1118+26_1118+31dup
XM_024448383.1:c.1217+26_1217+31dup	XP_024304151.1:n.1217+26_1217+31dup
NM_001178083.2:c.1079+26_1079+31dup	NP_001171554.1:n.1079+26_1079+31dup
NM_207122.2:c.1079+26_1079+31dup MANE Select	NP_997005.1:n.1079+26_1079+31dup
NM_001178083.3:c.1079+26_1079+31dup	NP_001171554.1:n.1079+26_1079+31dup
NM_001389628.1:c.1079+26_1079+31dup	NP_001376557.1:n.1079+26_1079+31dup
NM_001389630.1:c.1079+26_1079+31dup	NP_001376559.1:n.1079+26_1079+31dup