Canonical Allele Identifier: CA670741

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21844210C>T , CM000663.2:g.21844210C>T	GRCh38
NC_000001.10:g.22170703C>T , CM000663.1:g.22170703C>T	GRCh37
NC_000001.9:g.22043290C>T	NCBI36
NG_016740.1:g.98048G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005529.7:c.8554G>A MANE Select	NP_005520.4:p.Gly2852Arg
ENST00000374695.8:c.8554G>A MANE Select	ENSP00000363827.3:p.Gly2852Arg
NM_001291860.1:c.8557G>A	NP_001278789.1:p.Gly2853Arg
NM_001291860.2:c.8557G>A	NP_001278789.1:p.Gly2853Arg
NM_005529.6:c.8554G>A	NP_005520.4:p.Gly2852Arg
ENST00000374695.7:c.8554G>A	ENSP00000363827.3:p.Gly2852Arg
XM_006710594.2:c.9100G>A	XP_006710657.1:p.Gly3034Arg
XM_006710595.2:c.9052G>A	XP_006710658.1:p.Gly3018Arg
XM_006710596.2:c.9031G>A	XP_006710659.1:p.Gly3011Arg
XM_006710597.2:c.8554G>A	XP_006710660.1:p.Gly2852Arg
XM_011541317.1:c.9103G>A	XP_011539619.1:p.Gly3035Arg
XM_011541318.1:c.9103G>A	XP_011539620.1:p.Gly3035Arg
XM_011541318.2:c.9103G>A	XP_011539620.1:p.Gly3035Arg
XM_011541319.1:c.9103G>A	XP_011539621.1:p.Gly3035Arg
XM_011541320.1:c.8824G>A	XP_011539622.1:p.Gly2942Arg
XM_011541321.1:c.8608G>A	XP_011539623.1:p.Gly2870Arg
XM_017001120.1:c.8749G>A	XP_016856609.1:p.Gly2917Arg
XM_017001121.1:c.8698G>A	XP_016856610.1:p.Gly2900Arg
XM_017001122.1:c.8695G>A	XP_016856611.1:p.Gly2899Arg