Canonical Allele Identifier: CA1967883475

Gene: EXT2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44126826T= , CM000673.2:g.44126826T=	GRCh38
NC_000011.9:g.44148376T= , CM000673.1:g.44148376T=	GRCh37
NC_000011.8:g.44104952T=	NCBI36
NG_007560.1:g.36278T= , LRG_494:g.36278T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.950T=	ENSP00000342656.3:p.Phe317=
ENST00000395673.8:c.950T=	ENSP00000379032.4:p.Phe317=
ENST00000531161.6:n.1109T=
ENST00000682359.1:c.939+1842T=	ENSP00000508226.1:n.939+1842T=
ENST00000682711.1:c.-544+30974T=	ENSP00000506803.1:n.-544+30974T=
ENST00000682815.1:c.950T=	ENSP00000507234.1:p.Phe317=
ENST00000682947.1:n.1124T=
ENST00000682993.1:c.950T=	ENSP00000507580.1:p.Phe317=
ENST00000683000.1:c.950T=	ENSP00000508361.1:p.Phe317=
ENST00000683299.1:n.1367T=
ENST00000683870.1:c.950T=	ENSP00000507922.1:p.Phe317=
ENST00000683881.1:n.3511T=
ENST00000684039.1:c.950T=	ENSP00000507677.1:p.Phe317=
ENST00000684124.1:c.950T=	ENSP00000508332.1:p.Phe317=
ENST00000684533.1:c.744-3219T=	ENSP00000507915.1:n.744-3219T=
ENST00000533608.7:c.950T= MANE Select	ENSP00000431173.2:p.Phe317=
ENST00000343631.3:c.950T=	ENSP00000342656.3:p.Phe317=
ENST00000358681.8:c.950T=	ENSP00000351509.4:p.Phe317=
ENST00000395673.7:c.1049T=	ENSP00000379032.3:p.Phe350=
ENST00000531161.5:n.127T=
ENST00000533608.5:c.950T=	ENSP00000431173.1:p.Phe317=
NM_000401.3:c.1049T= , LRG_494t1:c.1049T=	NP_000392.3:p.Phe350=
NM_001178083.1:c.950T=	NP_001171554.1:p.Phe317=
NM_207122.1:c.950T= , LRG_494t2:c.950T=	NP_997005.1:p.Phe317=
XM_011519950.1:c.1088T=	XP_011518252.1:p.Phe363=
XM_011519951.1:c.989T=	XP_011518253.1:p.Phe330=
XM_024448383.1:c.1088T=	XP_024304151.1:p.Phe363=
NM_001178083.2:c.950T=	NP_001171554.1:p.Phe317=
NM_207122.2:c.950T= MANE Select	NP_997005.1:p.Phe317=
NM_001178083.3:c.950T=	NP_001171554.1:p.Phe317=
NM_001389628.1:c.950T=	NP_001376557.1:p.Phe317=
NM_001389630.1:c.950T=	NP_001376559.1:p.Phe317=