Canonical Allele Identifier: CA473811167

Gene: EXT2

Linked Data

• dbSNP Id: rs2135014821
• MyVariant Identifiers: chr11:g.44146375T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44124825T>G , CM000673.2:g.44124825T>G	GRCh38
NC_000011.9:g.44146375T>G , CM000673.1:g.44146375T>G	GRCh37
NC_000011.8:g.44102951T>G	NCBI36
NG_007560.1:g.34277T>G , LRG_494:g.34277T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000343631.4:c.780T>G	ENSP00000342656.3:p.Gly260=
ENST00000395673.8:c.780T>G	ENSP00000379032.4:p.Gly260=
ENST00000531161.6:n.939T>G
ENST00000682359.1:c.780T>G	ENSP00000508226.1:p.Gly260=
ENST00000682711.1:c.-544+28973T>G	ENSP00000506803.1:n.-544+28973T>G
ENST00000682815.1:c.780T>G	ENSP00000507234.1:p.Gly260=
ENST00000682947.1:n.954T>G
ENST00000682993.1:c.780T>G	ENSP00000507580.1:p.Gly260=
ENST00000683000.1:c.780T>G	ENSP00000508361.1:p.Gly260=
ENST00000683299.1:n.1197T>G
ENST00000683870.1:c.780T>G	ENSP00000507922.1:p.Gly260=
ENST00000683881.1:n.3341T>G
ENST00000684039.1:c.780T>G	ENSP00000507677.1:p.Gly260=
ENST00000684124.1:c.780T>G	ENSP00000508332.1:p.Gly260=
ENST00000684533.1:c.744-5220T>G	ENSP00000507915.1:n.744-5220T>G
ENST00000533608.7:c.780T>G MANE Select	ENSP00000431173.2:p.Gly260=
ENST00000343631.3:c.780T>G	ENSP00000342656.3:p.Gly260=
ENST00000358681.8:c.780T>G	ENSP00000351509.4:p.Gly260=
ENST00000395673.7:c.879T>G	ENSP00000379032.3:p.Gly293=
ENST00000533608.5:c.780T>G	ENSP00000431173.1:p.Gly260=
NM_000401.3:c.879T>G , LRG_494t1:c.879T>G	NP_000392.3:p.Gly293=
NM_001178083.1:c.780T>G	NP_001171554.1:p.Gly260=
NM_207122.1:c.780T>G , LRG_494t2:c.780T>G	NP_997005.1:p.Gly260=
XM_011519950.1:c.918T>G	XP_011518252.1:p.Gly306=
XM_011519951.1:c.819T>G	XP_011518253.1:p.Gly273=
XM_024448383.1:c.918T>G	XP_024304151.1:p.Gly306=
NM_001178083.2:c.780T>G	NP_001171554.1:p.Gly260=
NM_207122.2:c.780T>G MANE Select	NP_997005.1:p.Gly260=
NM_001178083.3:c.780T>G	NP_001171554.1:p.Gly260=
NM_001389628.1:c.780T>G	NP_001376557.1:p.Gly260=
NM_001389630.1:c.780T>G	NP_001376559.1:p.Gly260=