Canonical Allele Identifier: CA2573146318

Gene: EXT2

Linked Data

• ClinVar Variation Id: 1451350
• ClinVar RCV Id: RCV001993224
• dbSNP Id: rs2135015765

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44124985del , CM000673.2:g.44124985del	GRCh38
NC_000011.9:g.44146535del , CM000673.1:g.44146535del	GRCh37
NC_000011.8:g.44103111del	NCBI36
NG_007560.1:g.34437del , LRG_494:g.34437del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.939+1del
ENST00000395673.8:c.939+1del
ENST00000531161.6:n.1098+1del
ENST00000682359.1:c.939+1del
ENST00000682711.1:c.-544+29133del	ENSP00000506803.1:n.-544+29133del
ENST00000682815.1:c.939+1del
ENST00000682947.1:n.1113+1del
ENST00000682993.1:c.939+1del
ENST00000683000.1:c.939+1del
ENST00000683299.1:n.1356+1del
ENST00000683870.1:c.939+1del
ENST00000683881.1:n.3500+1del
ENST00000684039.1:c.939+1del
ENST00000684124.1:c.939+1del
ENST00000684533.1:c.744-5060del	ENSP00000507915.1:n.744-5060del
ENST00000533608.7:c.939+1del
ENST00000343631.3:c.939+1del
ENST00000358681.8:c.939+1del
ENST00000395673.7:c.1038+1del
ENST00000531161.5:n.116+1del
ENST00000533608.5:c.939+1del
NM_000401.3:c.1038+1del , LRG_494t1:c.1038+1del
NM_001178083.1:c.939+1del
NM_207122.1:c.939+1del , LRG_494t2:c.939+1del
XM_011519950.1:c.1077+1del
XM_011519951.1:c.978+1del
XM_024448383.1:c.1077+1del
NM_001178083.2:c.939+1del
NM_207122.2:c.939+1del
NM_001178083.3:c.939+1del
NM_001389628.1:c.939+1del
NM_001389630.1:c.939+1del