Canonical Allele Identifier: CA937445078

Gene: EXT2

Linked Data

• dbSNP Id: rs1954082392
• gnomAD v3: 11-44107956-G-GT
• gnomAD v4: 11-44107956-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44107956_44107957insT , CM000673.2:g.44107956_44107957insT	GRCh38
NC_000011.9:g.44129506_44129507insT , CM000673.1:g.44129506_44129507insT	GRCh37
NC_000011.8:g.44086082_44086083insT	NCBI36
NG_007560.1:g.17408_17409insT , LRG_494:g.17408_17409insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.244_245insT	ENSP00000342656.3:p.Asp82ValfsTer11
ENST00000395673.8:c.244_245insT	ENSP00000379032.4:p.Asp82ValfsTer11
ENST00000531161.6:n.403_404insT
ENST00000682359.1:c.244_245insT	ENSP00000508226.1:p.Asp82ValfsTer11
ENST00000682711.1:c.-544+12104_-544+12105insT	ENSP00000506803.1:n.-544+12104_-544+12105insT
ENST00000682815.1:c.244_245insT	ENSP00000507234.1:p.Asp82ValfsTer11
ENST00000682947.1:n.418_419insT
ENST00000682993.1:c.244_245insT	ENSP00000507580.1:p.Asp82ValfsTer11
ENST00000683000.1:c.244_245insT	ENSP00000508361.1:p.Asp82ValfsTer11
ENST00000683299.1:n.661_662insT
ENST00000683870.1:c.244_245insT	ENSP00000507922.1:p.Asp82ValfsTer11
ENST00000683881.1:n.2805_2806insT
ENST00000684039.1:c.244_245insT	ENSP00000507677.1:p.Asp82ValfsTer11
ENST00000684124.1:c.244_245insT	ENSP00000508332.1:p.Asp82ValfsTer11
ENST00000684533.1:c.244_245insT	ENSP00000507915.1:p.Asp82ValfsTer11
ENST00000533608.7:c.244_245insT MANE Select	ENSP00000431173.2:p.Asp82ValfsTer11
ENST00000343631.3:c.244_245insT	ENSP00000342656.3:p.Asp82ValfsTer11
ENST00000358681.8:c.244_245insT	ENSP00000351509.4:p.Asp82ValfsTer11
ENST00000395673.7:c.343_344insT	ENSP00000379032.3:p.Asp115ValfsTer11
ENST00000527014.1:c.244_245insT	ENSP00000434716.1:p.Asp82ValfsTer11
ENST00000533608.5:c.244_245insT	ENSP00000431173.1:p.Asp82ValfsTer11
NM_000401.3:c.343_344insT , LRG_494t1:c.343_344insT	NP_000392.3:p.Asp115ValfsTer11
NM_001178083.1:c.244_245insT	NP_001171554.1:p.Asp82ValfsTer11
NM_207122.1:c.244_245insT , LRG_494t2:c.244_245insT	NP_997005.1:p.Asp82ValfsTer11
XM_011519950.1:c.382_383insT	XP_011518252.1:p.Asp128ValfsTer11
XM_011519951.1:c.283_284insT	XP_011518253.1:p.Asp95ValfsTer11
XM_024448383.1:c.382_383insT	XP_024304151.1:p.Asp128ValfsTer11
NM_001178083.2:c.244_245insT	NP_001171554.1:p.Asp82ValfsTer11
NM_207122.2:c.244_245insT MANE Select	NP_997005.1:p.Asp82ValfsTer11
NM_001178083.3:c.244_245insT	NP_001171554.1:p.Asp82ValfsTer11
NM_001389628.1:c.244_245insT	NP_001376557.1:p.Asp82ValfsTer11
NM_001389630.1:c.244_245insT	NP_001376559.1:p.Asp82ValfsTer11