Canonical Allele Identifier: CA1139661913

Gene: EXT2

Linked Data

• ClinVar Variation Id: 944624
• ClinVar RCV Id: RCV001215063
• dbSNP Id: rs1954079044

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44107841_44107842delinsGT , CM000673.2:g.44107841_44107842delinsGT	GRCh38
NC_000011.9:g.44129391_44129392delinsGT , CM000673.1:g.44129391_44129392delinsGT	GRCh37
NC_000011.8:g.44085967_44085968delinsGT	NCBI36
NG_007560.1:g.17293_17294delinsGT , LRG_494:g.17293_17294delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.129_130delinsGT	ENSP00000342656.3:p.Phe43LeufsTer2
ENST00000395673.8:c.129_130delinsGT	ENSP00000379032.4:p.Phe43LeufsTer2
ENST00000531161.6:n.288_289delinsGT
ENST00000682359.1:c.129_130delinsGT	ENSP00000508226.1:p.Phe43LeufsTer2
ENST00000682711.1:c.-544+11989_-544+11990delinsGT	ENSP00000506803.1:n.-544+11989_-544+11990delinsGT
ENST00000682815.1:c.129_130delinsGT	ENSP00000507234.1:p.Phe43LeufsTer2
ENST00000682947.1:n.303_304delinsGT
ENST00000682993.1:c.129_130delinsGT	ENSP00000507580.1:p.Phe43LeufsTer2
ENST00000683000.1:c.129_130delinsGT	ENSP00000508361.1:p.Phe43LeufsTer2
ENST00000683299.1:n.546_547delinsGT
ENST00000683870.1:c.129_130delinsGT	ENSP00000507922.1:p.Phe43LeufsTer2
ENST00000683881.1:n.2690_2691delinsGT
ENST00000684039.1:c.129_130delinsGT	ENSP00000507677.1:p.Phe43LeufsTer2
ENST00000684124.1:c.129_130delinsGT	ENSP00000508332.1:p.Phe43LeufsTer2
ENST00000684533.1:c.129_130delinsGT	ENSP00000507915.1:p.Phe43LeufsTer2
ENST00000533608.7:c.129_130delinsGT MANE Select	ENSP00000431173.2:p.Phe43LeufsTer2
ENST00000343631.3:c.129_130delinsGT	ENSP00000342656.3:p.Phe43LeufsTer2
ENST00000358681.8:c.129_130delinsGT	ENSP00000351509.4:p.Phe43LeufsTer2
ENST00000395673.7:c.228_229delinsGT	ENSP00000379032.3:p.Phe76LeufsTer2
ENST00000527014.1:c.129_130delinsGT	ENSP00000434716.1:p.Phe43LeufsTer2
ENST00000532479.1:c.129_130delinsGT	ENSP00000433827.1:p.Phe43LeufsTer2
ENST00000533608.5:c.129_130delinsGT	ENSP00000431173.1:p.Phe43LeufsTer2
NM_000401.3:c.228_229delinsGT , LRG_494t1:c.228_229delinsGT	NP_000392.3:p.Phe76LeufsTer2
NM_001178083.1:c.129_130delinsGT	NP_001171554.1:p.Phe43LeufsTer2
NM_207122.1:c.129_130delinsGT , LRG_494t2:c.129_130delinsGT	NP_997005.1:p.Phe43LeufsTer2
XM_011519950.1:c.267_268delinsGT	XP_011518252.1:p.Phe89LeufsTer2
XM_011519951.1:c.168_169delinsGT	XP_011518253.1:p.Phe56LeufsTer2
XM_024448383.1:c.267_268delinsGT	XP_024304151.1:p.Phe89LeufsTer2
NM_001178083.2:c.129_130delinsGT	NP_001171554.1:p.Phe43LeufsTer2
NM_207122.2:c.129_130delinsGT MANE Select	NP_997005.1:p.Phe43LeufsTer2
NM_001178083.3:c.129_130delinsGT	NP_001171554.1:p.Phe43LeufsTer2
NM_001389628.1:c.129_130delinsGT	NP_001376557.1:p.Phe43LeufsTer2
NM_001389630.1:c.129_130delinsGT	NP_001376559.1:p.Phe43LeufsTer2