Canonical Allele Identifier: CA1967882688

Gene: EXT2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44124979C= , CM000673.2:g.44124979C=	GRCh38
NC_000011.9:g.44146529C= , CM000673.1:g.44146529C=	GRCh37
NC_000011.8:g.44103105C=	NCBI36
NG_007560.1:g.34431C= , LRG_494:g.34431C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.934C=	ENSP00000342656.3:p.Leu312=
ENST00000395673.8:c.934C=	ENSP00000379032.4:p.Leu312=
ENST00000531161.6:n.1093C=
ENST00000682359.1:c.934C=	ENSP00000508226.1:p.Leu312=
ENST00000682711.1:c.-544+29127C=	ENSP00000506803.1:n.-544+29127C=
ENST00000682815.1:c.934C=	ENSP00000507234.1:p.Leu312=
ENST00000682947.1:n.1108C=
ENST00000682993.1:c.934C=	ENSP00000507580.1:p.Leu312=
ENST00000683000.1:c.934C=	ENSP00000508361.1:p.Leu312=
ENST00000683299.1:n.1351C=
ENST00000683870.1:c.934C=	ENSP00000507922.1:p.Leu312=
ENST00000683881.1:n.3495C=
ENST00000684039.1:c.934C=	ENSP00000507677.1:p.Leu312=
ENST00000684124.1:c.934C=	ENSP00000508332.1:p.Leu312=
ENST00000684533.1:c.744-5066C=	ENSP00000507915.1:n.744-5066C=
ENST00000533608.7:c.934C= MANE Select	ENSP00000431173.2:p.Leu312=
ENST00000343631.3:c.934C=	ENSP00000342656.3:p.Leu312=
ENST00000358681.8:c.934C=	ENSP00000351509.4:p.Leu312=
ENST00000395673.7:c.1033C=	ENSP00000379032.3:p.Leu345=
ENST00000531161.5:n.111C=
ENST00000533608.5:c.934C=	ENSP00000431173.1:p.Leu312=
NM_000401.3:c.1033C= , LRG_494t1:c.1033C=	NP_000392.3:p.Leu345=
NM_001178083.1:c.934C=	NP_001171554.1:p.Leu312=
NM_207122.1:c.934C= , LRG_494t2:c.934C=	NP_997005.1:p.Leu312=
XM_011519950.1:c.1072C=	XP_011518252.1:p.Leu358=
XM_011519951.1:c.973C=	XP_011518253.1:p.Leu325=
XM_024448383.1:c.1072C=	XP_024304151.1:p.Leu358=
NM_001178083.2:c.934C=	NP_001171554.1:p.Leu312=
NM_207122.2:c.934C= MANE Select	NP_997005.1:p.Leu312=
NM_001178083.3:c.934C=	NP_001171554.1:p.Leu312=
NM_001389628.1:c.934C=	NP_001376557.1:p.Leu312=
NM_001389630.1:c.934C=	NP_001376559.1:p.Leu312=