Canonical Allele Identifier: CA671638

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21854738T>C , CM000663.2:g.21854738T>C	GRCh38
NC_000001.10:g.22181231T>C , CM000663.1:g.22181231T>C	GRCh37
NC_000001.9:g.22053818T>C	NCBI36
NG_016740.1:g.87520A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005529.7:c.6161A>G MANE Select	NP_005520.4:p.Lys2054Arg
ENST00000374695.8:c.6161A>G MANE Select	ENSP00000363827.3:p.Lys2054Arg
NM_001291860.1:c.6164A>G	NP_001278789.1:p.Lys2055Arg
NM_001291860.2:c.6164A>G	NP_001278789.1:p.Lys2055Arg
NM_005529.6:c.6161A>G	NP_005520.4:p.Lys2054Arg
ENST00000374695.7:c.6161A>G	ENSP00000363827.3:p.Lys2054Arg
XM_006710594.2:c.6707A>G	XP_006710657.1:p.Lys2236Arg
XM_006710595.2:c.6659A>G	XP_006710658.1:p.Lys2220Arg
XM_006710596.2:c.6638A>G	XP_006710659.1:p.Lys2213Arg
XM_006710597.2:c.6161A>G	XP_006710660.1:p.Lys2054Arg
XM_011541317.1:c.6710A>G	XP_011539619.1:p.Lys2237Arg
XM_011541318.1:c.6710A>G	XP_011539620.1:p.Lys2237Arg
XM_011541318.2:c.6710A>G	XP_011539620.1:p.Lys2237Arg
XM_011541319.1:c.6710A>G	XP_011539621.1:p.Lys2237Arg
XM_011541320.1:c.6710A>G	XP_011539622.1:p.Lys2237Arg
XM_011541321.1:c.6215A>G	XP_011539623.1:p.Lys2072Arg
XM_011541322.1:c.6710A>G	XP_011539624.1:p.Lys2237Arg
XM_017001120.1:c.6356A>G	XP_016856609.1:p.Lys2119Arg
XM_017001121.1:c.6305A>G	XP_016856610.1:p.Lys2102Arg
XM_017001122.1:c.6302A>G	XP_016856611.1:p.Lys2101Arg