Canonical Allele Identifier: CA670990

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21847758C>T , CM000663.2:g.21847758C>T	GRCh38
NC_000001.10:g.22174251C>T , CM000663.1:g.22174251C>T	GRCh37
NC_000001.9:g.22046838C>T	NCBI36
NG_016740.1:g.94500G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005529.7:c.7956G>A MANE Select	NP_005520.4:p.Val2652=
ENST00000374695.8:c.7956G>A MANE Select	ENSP00000363827.3:p.Val2652=
NM_001291860.1:c.7959G>A	NP_001278789.1:p.Val2653=
NM_001291860.2:c.7959G>A	NP_001278789.1:p.Val2653=
NM_005529.6:c.7956G>A	NP_005520.4:p.Val2652=
ENST00000374695.7:c.7956G>A	ENSP00000363827.3:p.Val2652=
ENST00000453796.1:n.201G>A
XM_006710594.2:c.8502G>A	XP_006710657.1:p.Val2834=
XM_006710595.2:c.8454G>A	XP_006710658.1:p.Val2818=
XM_006710596.2:c.8433G>A	XP_006710659.1:p.Val2811=
XM_006710597.2:c.7956G>A	XP_006710660.1:p.Val2652=
XM_011541317.1:c.8505G>A	XP_011539619.1:p.Val2835=
XM_011541318.1:c.8505G>A	XP_011539620.1:p.Val2835=
XM_011541318.2:c.8505G>A	XP_011539620.1:p.Val2835=
XM_011541319.1:c.8505G>A	XP_011539621.1:p.Val2835=
XM_011541320.1:c.8226G>A	XP_011539622.1:p.Val2742=
XM_011541321.1:c.8010G>A	XP_011539623.1:p.Val2670=
XM_017001120.1:c.8151G>A	XP_016856609.1:p.Val2717=
XM_017001121.1:c.8100G>A	XP_016856610.1:p.Val2700=
XM_017001122.1:c.8097G>A	XP_016856611.1:p.Val2699=