Canonical Allele Identifier: CA2613202352

Gene: EXT2

Linked Data

• gnomAD v4: 11-44126814-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44126816del , CM000673.2:g.44126816del	GRCh38
NC_000011.9:g.44148366del , CM000673.1:g.44148366del	GRCh37
NC_000011.8:g.44104942del	NCBI36
NG_007560.1:g.36268del , LRG_494:g.36268del

Transcript Alleles

HGVS	Amino-acid change
ENST00000343631.4:c.940del
ENST00000395673.8:c.940del
ENST00000531161.6:n.1099del
ENST00000682359.1:c.939+1832del	ENSP00000508226.1:n.939+1832del
ENST00000682711.1:c.-544+30964del	ENSP00000506803.1:n.-544+30964del
ENST00000682815.1:c.940del
ENST00000682947.1:n.1114del
ENST00000682993.1:c.940del
ENST00000683000.1:c.940del
ENST00000683299.1:n.1357del
ENST00000683870.1:c.940del
ENST00000683881.1:n.3501del
ENST00000684039.1:c.940del
ENST00000684124.1:c.940del
ENST00000684533.1:c.744-3229del	ENSP00000507915.1:n.744-3229del
ENST00000533608.7:c.940del
ENST00000343631.3:c.940del
ENST00000358681.8:c.940del
ENST00000395673.7:c.1039del
ENST00000531161.5:n.117del
ENST00000533608.5:c.940del
NM_000401.3:c.1039del , LRG_494t1:c.1039del
NM_001178083.1:c.940del
NM_207122.1:c.940del , LRG_494t2:c.940del
XM_011519950.1:c.1078del
XM_011519951.1:c.979del
XM_024448383.1:c.1078del
NM_001178083.2:c.940del
NM_207122.2:c.940del
NM_001178083.3:c.940del
NM_001389628.1:c.940del
NM_001389630.1:c.940del