Canonical Allele Identifier: CA672292

Gene: HSPG2

Linked Data

• ClinVar Variation Id: 447552
• ClinVar RCV Id: RCV001097754 ; RCV000517646 ; RCV001097753 ; RCV002527484 ; RCV002481676
• dbSNP Id: rs757410321
• ExAC: 1:22191782 C / T
• gnomAD v2: 1-22191782-C-T
• gnomAD v3: 1-21865289-C-T
• gnomAD v4: 1-21865289-C-T
• COSMIC: COSM5957385
• MyVariant Identifiers: chr1:g.22191782C>T (hg19) ; chr1:g.21865289C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21865289C>T , CM000663.2:g.21865289C>T	GRCh38
NC_000001.10:g.22191782C>T , CM000663.1:g.22191782C>T	GRCh37
NC_000001.9:g.22064369C>T	NCBI36
NG_016740.1:g.76969G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.4391G>A MANE Select	ENSP00000363827.3:p.Arg1464Gln
ENST00000374695.7:c.4391G>A	ENSP00000363827.3:p.Arg1464Gln
NM_001291860.1:c.4394G>A	NP_001278789.1:p.Arg1465Gln
NM_005529.6:c.4391G>A	NP_005520.4:p.Arg1464Gln
XM_006710594.2:c.4937G>A	XP_006710657.1:p.Arg1646Gln
XM_006710595.2:c.4889G>A	XP_006710658.1:p.Arg1630Gln
XM_006710596.2:c.4868G>A	XP_006710659.1:p.Arg1623Gln
XM_006710597.2:c.4391G>A	XP_006710660.1:p.Arg1464Gln
XM_011541317.1:c.4940G>A	XP_011539619.1:p.Arg1647Gln
XM_011541318.1:c.4940G>A	XP_011539620.1:p.Arg1647Gln
XM_011541319.1:c.4940G>A	XP_011539621.1:p.Arg1647Gln
XM_011541320.1:c.4940G>A	XP_011539622.1:p.Arg1647Gln
XM_011541321.1:c.4445G>A	XP_011539623.1:p.Arg1482Gln
XM_011541322.1:c.4940G>A	XP_011539624.1:p.Arg1647Gln
XM_011541318.2:c.4940G>A	XP_011539620.1:p.Arg1647Gln
XM_017001120.1:c.4586G>A	XP_016856609.1:p.Arg1529Gln
XM_017001121.1:c.4535G>A	XP_016856610.1:p.Arg1512Gln
XM_017001122.1:c.4532G>A	XP_016856611.1:p.Arg1511Gln
NM_005529.7:c.4391G>A MANE Select	NP_005520.4:p.Arg1464Gln
NM_001291860.2:c.4394G>A	NP_001278789.1:p.Arg1465Gln