Canonical Allele Identifier: CA671993

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21859586C>T , CM000663.2:g.21859586C>T	GRCh38
NC_000001.10:g.22186079C>T , CM000663.1:g.22186079C>T	GRCh37
NC_000001.9:g.22058666C>T	NCBI36
NG_016740.1:g.82672G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005529.7:c.5273G>A MANE Select	NP_005520.4:p.Arg1758Gln
ENST00000374695.8:c.5273G>A MANE Select	ENSP00000363827.3:p.Arg1758Gln
NM_001291860.1:c.5276G>A	NP_001278789.1:p.Arg1759Gln
NM_001291860.2:c.5276G>A	NP_001278789.1:p.Arg1759Gln
NM_005529.6:c.5273G>A	NP_005520.4:p.Arg1758Gln
ENST00000374695.7:c.5273G>A	ENSP00000363827.3:p.Arg1758Gln
XM_006710594.2:c.5819G>A	XP_006710657.1:p.Arg1940Gln
XM_006710595.2:c.5771G>A	XP_006710658.1:p.Arg1924Gln
XM_006710596.2:c.5750G>A	XP_006710659.1:p.Arg1917Gln
XM_006710597.2:c.5273G>A	XP_006710660.1:p.Arg1758Gln
XM_011541317.1:c.5822G>A	XP_011539619.1:p.Arg1941Gln
XM_011541318.1:c.5822G>A	XP_011539620.1:p.Arg1941Gln
XM_011541318.2:c.5822G>A	XP_011539620.1:p.Arg1941Gln
XM_011541319.1:c.5822G>A	XP_011539621.1:p.Arg1941Gln
XM_011541320.1:c.5822G>A	XP_011539622.1:p.Arg1941Gln
XM_011541321.1:c.5327G>A	XP_011539623.1:p.Arg1776Gln
XM_011541322.1:c.5822G>A	XP_011539624.1:p.Arg1941Gln
XM_017001120.1:c.5468G>A	XP_016856609.1:p.Arg1823Gln
XM_017001121.1:c.5417G>A	XP_016856610.1:p.Arg1806Gln
XM_017001122.1:c.5414G>A	XP_016856611.1:p.Arg1805Gln