Canonical Allele Identifier: CA670646

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21842875G>A , CM000663.2:g.21842875G>A	GRCh38
NC_000001.10:g.22169368G>A , CM000663.1:g.22169368G>A	GRCh37
NC_000001.9:g.22041955G>A	NCBI36
NG_016740.1:g.99383C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005529.7:c.8805C>T MANE Select	NP_005520.4:p.His2935=
ENST00000374695.8:c.8805C>T MANE Select	ENSP00000363827.3:p.His2935=
NM_001291860.1:c.8808C>T	NP_001278789.1:p.His2936=
NM_001291860.2:c.8808C>T	NP_001278789.1:p.His2936=
NM_005529.6:c.8805C>T	NP_005520.4:p.His2935=
ENST00000374695.7:c.8805C>T	ENSP00000363827.3:p.His2935=
XM_006710594.2:c.9351C>T	XP_006710657.1:p.His3117=
XM_006710595.2:c.9303C>T	XP_006710658.1:p.His3101=
XM_006710596.2:c.9282C>T	XP_006710659.1:p.His3094=
XM_006710597.2:c.8805C>T	XP_006710660.1:p.His2935=
XM_011541317.1:c.9354C>T	XP_011539619.1:p.His3118=
XM_011541318.1:c.9354C>T	XP_011539620.1:p.His3118=
XM_011541318.2:c.9354C>T	XP_011539620.1:p.His3118=
XM_011541319.1:c.9354C>T	XP_011539621.1:p.His3118=
XM_011541320.1:c.9075C>T	XP_011539622.1:p.His3025=
XM_011541321.1:c.8859C>T	XP_011539623.1:p.His2953=
XM_017001120.1:c.9000C>T	XP_016856609.1:p.His3000=
XM_017001121.1:c.8949C>T	XP_016856610.1:p.His2983=
XM_017001122.1:c.8946C>T	XP_016856611.1:p.His2982=