Canonical Allele Identifier: CA671533

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21853042G>A , CM000663.2:g.21853042G>A	GRCh38
NC_000001.10:g.22179535G>A , CM000663.1:g.22179535G>A	GRCh37
NC_000001.9:g.22052122G>A	NCBI36
NG_016740.1:g.89216C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005529.7:c.6468C>T MANE Select	NP_005520.4:p.Ile2156=
ENST00000374695.8:c.6468C>T MANE Select	ENSP00000363827.3:p.Ile2156=
NM_001291860.1:c.6471C>T	NP_001278789.1:p.Ile2157=
NM_001291860.2:c.6471C>T	NP_001278789.1:p.Ile2157=
NM_005529.6:c.6468C>T	NP_005520.4:p.Ile2156=
ENST00000374695.7:c.6468C>T	ENSP00000363827.3:p.Ile2156=
ENST00000493940.2:n.226C>T
XM_006710594.2:c.7014C>T	XP_006710657.1:p.Ile2338=
XM_006710595.2:c.6966C>T	XP_006710658.1:p.Ile2322=
XM_006710596.2:c.6945C>T	XP_006710659.1:p.Ile2315=
XM_006710597.2:c.6468C>T	XP_006710660.1:p.Ile2156=
XM_011541317.1:c.7017C>T	XP_011539619.1:p.Ile2339=
XM_011541318.1:c.7017C>T	XP_011539620.1:p.Ile2339=
XM_011541318.2:c.7017C>T	XP_011539620.1:p.Ile2339=
XM_011541319.1:c.7017C>T	XP_011539621.1:p.Ile2339=
XM_011541320.1:c.7017C>T	XP_011539622.1:p.Ile2339=
XM_011541321.1:c.6522C>T	XP_011539623.1:p.Ile2174=
XM_011541322.1:c.7017C>T	XP_011539624.1:p.Ile2339=
XM_017001120.1:c.6663C>T	XP_016856609.1:p.Ile2221=
XM_017001121.1:c.6612C>T	XP_016856610.1:p.Ile2204=
XM_017001122.1:c.6609C>T	XP_016856611.1:p.Ile2203=