Canonical Allele Identifier: CA2695213762

Gene: EXT2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44107831_44107832del , CM000673.2:g.44107831_44107832del	GRCh38
NC_000011.9:g.44129381_44129382del , CM000673.1:g.44129381_44129382del	GRCh37
NC_000011.8:g.44085957_44085958del	NCBI36
NG_007560.1:g.17283_17284del , LRG_494:g.17283_17284del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.119_120del	ENSP00000342656.3:p.Thr40ArgfsTer15
ENST00000395673.8:c.119_120del	ENSP00000379032.4:p.Thr40ArgfsTer15
ENST00000531161.6:n.278_279del
ENST00000682359.1:c.119_120del	ENSP00000508226.1:p.Thr40ArgfsTer15
ENST00000682711.1:c.-544+11979_-544+11980del	ENSP00000506803.1:n.-544+11979_-544+11980del
ENST00000682815.1:c.119_120del	ENSP00000507234.1:p.Thr40ArgfsTer15
ENST00000682947.1:n.293_294del
ENST00000682993.1:c.119_120del	ENSP00000507580.1:p.Thr40ArgfsTer15
ENST00000683000.1:c.119_120del	ENSP00000508361.1:p.Thr40ArgfsTer15
ENST00000683299.1:n.536_537del
ENST00000683870.1:c.119_120del	ENSP00000507922.1:p.Thr40ArgfsTer15
ENST00000683881.1:n.2680_2681del
ENST00000684039.1:c.119_120del	ENSP00000507677.1:p.Thr40ArgfsTer15
ENST00000684124.1:c.119_120del	ENSP00000508332.1:p.Thr40ArgfsTer15
ENST00000684533.1:c.119_120del	ENSP00000507915.1:p.Thr40ArgfsTer15
ENST00000533608.7:c.119_120del MANE Select	ENSP00000431173.2:p.Thr40ArgfsTer15
ENST00000343631.3:c.119_120del	ENSP00000342656.3:p.Thr40ArgfsTer15
ENST00000358681.8:c.119_120del	ENSP00000351509.4:p.Thr40ArgfsTer15
ENST00000395673.7:c.218_219del	ENSP00000379032.3:p.Thr73ArgfsTer15
ENST00000527014.1:c.119_120del	ENSP00000434716.1:p.Thr40ArgfsTer15
ENST00000532479.1:c.119_120del	ENSP00000433827.1:p.Thr40ArgfsTer?
ENST00000533608.5:c.119_120del	ENSP00000431173.1:p.Thr40ArgfsTer15
NM_000401.3:c.218_219del , LRG_494t1:c.218_219del	NP_000392.3:p.Thr73ArgfsTer15
NM_001178083.1:c.119_120del	NP_001171554.1:p.Thr40ArgfsTer15
NM_207122.1:c.119_120del , LRG_494t2:c.119_120del	NP_997005.1:p.Thr40ArgfsTer15
XM_011519950.1:c.257_258del	XP_011518252.1:p.Thr86ArgfsTer15
XM_011519951.1:c.158_159del	XP_011518253.1:p.Thr53ArgfsTer15
XM_024448383.1:c.257_258del	XP_024304151.1:p.Thr86ArgfsTer15
NM_001178083.2:c.119_120del	NP_001171554.1:p.Thr40ArgfsTer15
NM_207122.2:c.119_120del MANE Select	NP_997005.1:p.Thr40ArgfsTer15
NM_001178083.3:c.119_120del	NP_001171554.1:p.Thr40ArgfsTer15
NM_001389628.1:c.119_120del	NP_001376557.1:p.Thr40ArgfsTer15
NM_001389630.1:c.119_120del	NP_001376559.1:p.Thr40ArgfsTer15