Canonical Allele Identifier: CA670782

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21846108C>T , CM000663.2:g.21846108C>T	GRCh38
NC_000001.10:g.22172601C>T , CM000663.1:g.22172601C>T	GRCh37
NC_000001.9:g.22045188C>T	NCBI36
NG_016740.1:g.96150G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005529.7:c.8464G>A MANE Select	NP_005520.4:p.Ala2822Thr
ENST00000374695.8:c.8464G>A MANE Select	ENSP00000363827.3:p.Ala2822Thr
NM_001291860.1:c.8467G>A	NP_001278789.1:p.Ala2823Thr
NM_001291860.2:c.8467G>A	NP_001278789.1:p.Ala2823Thr
NM_005529.6:c.8464G>A	NP_005520.4:p.Ala2822Thr
ENST00000374695.7:c.8464G>A	ENSP00000363827.3:p.Ala2822Thr
XM_006710594.2:c.9010G>A	XP_006710657.1:p.Ala3004Thr
XM_006710595.2:c.8962G>A	XP_006710658.1:p.Ala2988Thr
XM_006710596.2:c.8941G>A	XP_006710659.1:p.Ala2981Thr
XM_006710597.2:c.8464G>A	XP_006710660.1:p.Ala2822Thr
XM_011541317.1:c.9013G>A	XP_011539619.1:p.Ala3005Thr
XM_011541318.1:c.9013G>A	XP_011539620.1:p.Ala3005Thr
XM_011541318.2:c.9013G>A	XP_011539620.1:p.Ala3005Thr
XM_011541319.1:c.9013G>A	XP_011539621.1:p.Ala3005Thr
XM_011541320.1:c.8734G>A	XP_011539622.1:p.Ala2912Thr
XM_011541321.1:c.8518G>A	XP_011539623.1:p.Ala2840Thr
XM_017001120.1:c.8659G>A	XP_016856609.1:p.Ala2887Thr
XM_017001121.1:c.8608G>A	XP_016856610.1:p.Ala2870Thr
XM_017001122.1:c.8605G>A	XP_016856611.1:p.Ala2869Thr