Canonical Allele Identifier: CA669476

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21828408G>A , CM000663.2:g.21828408G>A	GRCh38
NC_000001.10:g.22154901G>A , CM000663.1:g.22154901G>A	GRCh37
NC_000001.9:g.22027488G>A	NCBI36
NG_016740.1:g.113850C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005529.7:c.12256C>T MANE Select	NP_005520.4:p.Arg4086Trp
ENST00000374695.8:c.12256C>T MANE Select	ENSP00000363827.3:p.Arg4086Trp
NM_001291860.1:c.12259C>T	NP_001278789.1:p.Arg4087Trp
NM_001291860.2:c.12259C>T	NP_001278789.1:p.Arg4087Trp
NM_005529.6:c.12256C>T	NP_005520.4:p.Arg4086Trp
ENST00000374695.7:c.12256C>T	ENSP00000363827.3:p.Arg4086Trp
ENST00000486901.1:n.1595C>T
XM_006710594.2:c.12820C>T	XP_006710657.1:p.Arg4274Trp
XM_006710595.2:c.12772C>T	XP_006710658.1:p.Arg4258Trp
XM_006710596.2:c.12751C>T	XP_006710659.1:p.Arg4251Trp
XM_006710597.2:c.12274C>T	XP_006710660.1:p.Arg4092Trp
XM_011541317.1:c.12823C>T	XP_011539619.1:p.Arg4275Trp
XM_011541318.1:c.12805C>T	XP_011539620.1:p.Arg4269Trp
XM_011541318.2:c.12805C>T	XP_011539620.1:p.Arg4269Trp
XM_011541319.1:c.12823C>T	XP_011539621.1:p.Arg4275Trp
XM_011541320.1:c.12544C>T	XP_011539622.1:p.Arg4182Trp
XM_011541321.1:c.12328C>T	XP_011539623.1:p.Arg4110Trp
XM_017001120.1:c.12451C>T	XP_016856609.1:p.Arg4151Trp
XM_017001121.1:c.12400C>T	XP_016856610.1:p.Arg4134Trp
XM_017001122.1:c.12397C>T	XP_016856611.1:p.Arg4133Trp