Canonical Allele Identifier: CA670435

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21841138C>T , CM000663.2:g.21841138C>T	GRCh38
NC_000001.10:g.22167631C>T , CM000663.1:g.22167631C>T	GRCh37
NC_000001.9:g.22040218C>T	NCBI36
NG_016740.1:g.101120G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.9476G>A MANE Select	ENSP00000363827.3:p.Arg3159Gln
ENST00000374695.7:c.9476G>A	ENSP00000363827.3:p.Arg3159Gln
NM_001291860.1:c.9479G>A	NP_001278789.1:p.Arg3160Gln
NM_005529.6:c.9476G>A	NP_005520.4:p.Arg3159Gln
XM_006710594.2:c.10022G>A	XP_006710657.1:p.Arg3341Gln
XM_006710595.2:c.9974G>A	XP_006710658.1:p.Arg3325Gln
XM_006710596.2:c.9953G>A	XP_006710659.1:p.Arg3318Gln
XM_006710597.2:c.9476G>A	XP_006710660.1:p.Arg3159Gln
XM_011541317.1:c.10025G>A	XP_011539619.1:p.Arg3342Gln
XM_011541318.1:c.10025G>A	XP_011539620.1:p.Arg3342Gln
XM_011541319.1:c.10025G>A	XP_011539621.1:p.Arg3342Gln
XM_011541320.1:c.9746G>A	XP_011539622.1:p.Arg3249Gln
XM_011541321.1:c.9530G>A	XP_011539623.1:p.Arg3177Gln
XM_011541318.2:c.10025G>A	XP_011539620.1:p.Arg3342Gln
XM_017001120.1:c.9671G>A	XP_016856609.1:p.Arg3224Gln
XM_017001121.1:c.9620G>A	XP_016856610.1:p.Arg3207Gln
XM_017001122.1:c.9617G>A	XP_016856611.1:p.Arg3206Gln
NM_005529.7:c.9476G>A MANE Select	NP_005520.4:p.Arg3159Gln
NM_001291860.2:c.9479G>A	NP_001278789.1:p.Arg3160Gln