Canonical Allele Identifier: CA672259

Gene: HSPG2

Linked Data

• ClinVar Variation Id: 295844
• ClinVar RCV Id: RCV000331857 ; RCV000365542 ; RCV000907630 ; RCV004537651
• dbSNP Id: rs138460117
• ExAC: 1:22191473 A / T
• gnomAD v2: 1-22191473-A-T
• gnomAD v3: 1-21864980-A-T
• gnomAD v4: 1-21864980-A-T
• MyVariant Identifiers: chr1:g.22191473A>T (hg19) ; chr1:g.21864980A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21864980A>T , CM000663.2:g.21864980A>T	GRCh38
NC_000001.10:g.22191473A>T , CM000663.1:g.22191473A>T	GRCh37
NC_000001.9:g.22064060A>T	NCBI36
NG_016740.1:g.77278T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.4489T>A MANE Select	ENSP00000363827.3:p.Phe1497Ile
ENST00000374695.7:c.4489T>A	ENSP00000363827.3:p.Phe1497Ile
NM_001291860.1:c.4492T>A	NP_001278789.1:p.Phe1498Ile
NM_005529.6:c.4489T>A	NP_005520.4:p.Phe1497Ile
XM_006710594.2:c.5035T>A	XP_006710657.1:p.Phe1679Ile
XM_006710595.2:c.4987T>A	XP_006710658.1:p.Phe1663Ile
XM_006710596.2:c.4966T>A	XP_006710659.1:p.Phe1656Ile
XM_006710597.2:c.4489T>A	XP_006710660.1:p.Phe1497Ile
XM_011541317.1:c.5038T>A	XP_011539619.1:p.Phe1680Ile
XM_011541318.1:c.5038T>A	XP_011539620.1:p.Phe1680Ile
XM_011541319.1:c.5038T>A	XP_011539621.1:p.Phe1680Ile
XM_011541320.1:c.5038T>A	XP_011539622.1:p.Phe1680Ile
XM_011541321.1:c.4543T>A	XP_011539623.1:p.Phe1515Ile
XM_011541322.1:c.5038T>A	XP_011539624.1:p.Phe1680Ile
XM_011541318.2:c.5038T>A	XP_011539620.1:p.Phe1680Ile
XM_017001120.1:c.4684T>A	XP_016856609.1:p.Phe1562Ile
XM_017001121.1:c.4633T>A	XP_016856610.1:p.Phe1545Ile
XM_017001122.1:c.4630T>A	XP_016856611.1:p.Phe1544Ile
NM_005529.7:c.4489T>A MANE Select	NP_005520.4:p.Phe1497Ile
NM_001291860.2:c.4492T>A	NP_001278789.1:p.Phe1498Ile