Canonical Allele Identifier: CA2580084132

Gene: EXT2

Linked Data

• ClinVar Variation Id: 1966888
• ClinVar RCV Id: RCV002721624

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44126878_44126880dup , CM000673.2:g.44126878_44126880dup	GRCh38
NC_000011.9:g.44148428_44148430dup , CM000673.1:g.44148428_44148430dup	GRCh37
NC_000011.8:g.44105004_44105006dup	NCBI36
NG_007560.1:g.36330_36332dup , LRG_494:g.36330_36332dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.1002_1004dup	ENSP00000342656.3:p.Leu335_Gln336insLeu
ENST00000395673.8:c.1002_1004dup	ENSP00000379032.4:p.Leu335_Gln336insLeu
ENST00000531161.6:n.1161_1163dup
ENST00000682359.1:c.939+1894_939+1896dup	ENSP00000508226.1:n.939+1894_939+1896dup
ENST00000682711.1:c.-544+31026_-544+31028dup	ENSP00000506803.1:n.-544+31026_-544+31028dup
ENST00000682815.1:c.1002_1004dup	ENSP00000507234.1:p.Leu335_Gln336insLeu
ENST00000682947.1:n.1176_1178dup
ENST00000682993.1:c.1002_1004dup	ENSP00000507580.1:p.Leu335_Gln336insLeu
ENST00000683000.1:c.1002_1004dup	ENSP00000508361.1:p.Leu335_Gln336insLeu
ENST00000683299.1:n.1419_1421dup
ENST00000683870.1:c.1002_1004dup	ENSP00000507922.1:p.Leu335_Gln336insLeu
ENST00000683881.1:n.3563_3565dup
ENST00000684039.1:c.1002_1004dup	ENSP00000507677.1:p.Leu335_Gln336insLeu
ENST00000684124.1:c.1002_1004dup	ENSP00000508332.1:p.Leu335_Gln336insLeu
ENST00000684533.1:c.744-3167_744-3165dup	ENSP00000507915.1:n.744-3167_744-3165dup
ENST00000533608.7:c.1002_1004dup MANE Select	ENSP00000431173.2:p.Leu335_Gln336insLeu
ENST00000343631.3:c.1002_1004dup	ENSP00000342656.3:p.Leu335_Gln336insLeu
ENST00000358681.8:c.1002_1004dup	ENSP00000351509.4:p.Leu335_Gln336insLeu
ENST00000395673.7:c.1101_1103dup	ENSP00000379032.3:p.Leu368_Gln369insLeu
ENST00000531161.5:n.179_181dup
ENST00000533608.5:c.1002_1004dup	ENSP00000431173.1:p.Leu335_Gln336insLeu
NM_000401.3:c.1101_1103dup , LRG_494t1:c.1101_1103dup	NP_000392.3:p.Leu368_Gln369insLeu
NM_001178083.1:c.1002_1004dup	NP_001171554.1:p.Leu335_Gln336insLeu
NM_207122.1:c.1002_1004dup , LRG_494t2:c.1002_1004dup	NP_997005.1:p.Leu335_Gln336insLeu
XM_011519950.1:c.1140_1142dup	XP_011518252.1:p.Leu381_Gln382insLeu
XM_011519951.1:c.1041_1043dup	XP_011518253.1:p.Leu348_Gln349insLeu
XM_024448383.1:c.1140_1142dup	XP_024304151.1:p.Leu381_Gln382insLeu
NM_001178083.2:c.1002_1004dup	NP_001171554.1:p.Leu335_Gln336insLeu
NM_207122.2:c.1002_1004dup MANE Select	NP_997005.1:p.Leu335_Gln336insLeu
NM_001178083.3:c.1002_1004dup	NP_001171554.1:p.Leu335_Gln336insLeu
NM_001389628.1:c.1002_1004dup	NP_001376557.1:p.Leu335_Gln336insLeu
NM_001389630.1:c.1002_1004dup	NP_001376559.1:p.Leu335_Gln336insLeu