Canonical Allele Identifier: CA671308

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21851585C>T , CM000663.2:g.21851585C>T	GRCh38
NC_000001.10:g.22178078C>T , CM000663.1:g.22178078C>T	GRCh37
NC_000001.9:g.22050665C>T	NCBI36
NG_016740.1:g.90673G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005529.7:c.7119G>A MANE Select	NP_005520.4:p.Thr2373=
ENST00000374695.8:c.7119G>A MANE Select	ENSP00000363827.3:p.Thr2373=
NM_001291860.1:c.7122G>A	NP_001278789.1:p.Thr2374=
NM_001291860.2:c.7122G>A	NP_001278789.1:p.Thr2374=
NM_005529.6:c.7119G>A	NP_005520.4:p.Thr2373=
ENST00000374695.7:c.7119G>A	ENSP00000363827.3:p.Thr2373=
ENST00000493940.2:n.310G>A
XM_006710594.2:c.7665G>A	XP_006710657.1:p.Thr2555=
XM_006710595.2:c.7617G>A	XP_006710658.1:p.Thr2539=
XM_006710596.2:c.7596G>A	XP_006710659.1:p.Thr2532=
XM_006710597.2:c.7119G>A	XP_006710660.1:p.Thr2373=
XM_011541317.1:c.7668G>A	XP_011539619.1:p.Thr2556=
XM_011541318.1:c.7668G>A	XP_011539620.1:p.Thr2556=
XM_011541318.2:c.7668G>A	XP_011539620.1:p.Thr2556=
XM_011541319.1:c.7668G>A	XP_011539621.1:p.Thr2556=
XM_011541320.1:c.7389G>A	XP_011539622.1:p.Thr2463=
XM_011541321.1:c.7173G>A	XP_011539623.1:p.Thr2391=
XM_011541322.1:c.7668G>A	XP_011539624.1:p.Thr2556=
XM_017001120.1:c.7314G>A	XP_016856609.1:p.Thr2438=
XM_017001121.1:c.7263G>A	XP_016856610.1:p.Thr2421=
XM_017001122.1:c.7260G>A	XP_016856611.1:p.Thr2420=