Canonical Allele Identifier: CA671152

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21848969G>A , CM000663.2:g.21848969G>A	GRCh38
NC_000001.10:g.22175462G>A , CM000663.1:g.22175462G>A	GRCh37
NC_000001.9:g.22048049G>A	NCBI36
NG_016740.1:g.93289C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.7509C>T MANE Select	ENSP00000363827.3:p.Cys2503=
ENST00000374695.7:c.7509C>T	ENSP00000363827.3:p.Cys2503=
NM_001291860.1:c.7512C>T	NP_001278789.1:p.Cys2504=
NM_005529.6:c.7509C>T	NP_005520.4:p.Cys2503=
XM_006710594.2:c.8055C>T	XP_006710657.1:p.Cys2685=
XM_006710595.2:c.8007C>T	XP_006710658.1:p.Cys2669=
XM_006710596.2:c.7986C>T	XP_006710659.1:p.Cys2662=
XM_006710597.2:c.7509C>T	XP_006710660.1:p.Cys2503=
XM_011541317.1:c.8058C>T	XP_011539619.1:p.Cys2686=
XM_011541318.1:c.8058C>T	XP_011539620.1:p.Cys2686=
XM_011541319.1:c.8058C>T	XP_011539621.1:p.Cys2686=
XM_011541320.1:c.7779C>T	XP_011539622.1:p.Cys2593=
XM_011541321.1:c.7563C>T	XP_011539623.1:p.Cys2521=
XM_011541318.2:c.8058C>T	XP_011539620.1:p.Cys2686=
XM_017001120.1:c.7704C>T	XP_016856609.1:p.Cys2568=
XM_017001121.1:c.7653C>T	XP_016856610.1:p.Cys2551=
XM_017001122.1:c.7650C>T	XP_016856611.1:p.Cys2550=
NM_005529.7:c.7509C>T MANE Select	NP_005520.4:p.Cys2503=
NM_001291860.2:c.7512C>T	NP_001278789.1:p.Cys2504=