Canonical Allele Identifier: CA672260

Gene: HSPG2

Linked Data

• ClinVar Variation Id: 295845
• ClinVar RCV Id: RCV000273324 ; RCV000325999 ; RCV000518694 ; RCV000880307 ; RCV002278373
• dbSNP Id: rs372318754
• ExAC: 1:22191474 C / T
• gnomAD v2: 1-22191474-C-T
• gnomAD v3: 1-21864981-C-T
• gnomAD v4: 1-21864981-C-T
• MyVariant Identifiers: chr1:g.22191474C>T (hg19) ; chr1:g.21864981C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21864981C>T , CM000663.2:g.21864981C>T	GRCh38
NC_000001.10:g.22191474C>T , CM000663.1:g.22191474C>T	GRCh37
NC_000001.9:g.22064061C>T	NCBI36
NG_016740.1:g.77277G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.4488G>A MANE Select	ENSP00000363827.3:p.Thr1496=
ENST00000374695.7:c.4488G>A	ENSP00000363827.3:p.Thr1496=
NM_001291860.1:c.4491G>A	NP_001278789.1:p.Thr1497=
NM_005529.6:c.4488G>A	NP_005520.4:p.Thr1496=
XM_006710594.2:c.5034G>A	XP_006710657.1:p.Thr1678=
XM_006710595.2:c.4986G>A	XP_006710658.1:p.Thr1662=
XM_006710596.2:c.4965G>A	XP_006710659.1:p.Thr1655=
XM_006710597.2:c.4488G>A	XP_006710660.1:p.Thr1496=
XM_011541317.1:c.5037G>A	XP_011539619.1:p.Thr1679=
XM_011541318.1:c.5037G>A	XP_011539620.1:p.Thr1679=
XM_011541319.1:c.5037G>A	XP_011539621.1:p.Thr1679=
XM_011541320.1:c.5037G>A	XP_011539622.1:p.Thr1679=
XM_011541321.1:c.4542G>A	XP_011539623.1:p.Thr1514=
XM_011541322.1:c.5037G>A	XP_011539624.1:p.Thr1679=
XM_011541318.2:c.5037G>A	XP_011539620.1:p.Thr1679=
XM_017001120.1:c.4683G>A	XP_016856609.1:p.Thr1561=
XM_017001121.1:c.4632G>A	XP_016856610.1:p.Thr1544=
XM_017001122.1:c.4629G>A	XP_016856611.1:p.Thr1543=
NM_005529.7:c.4488G>A MANE Select	NP_005520.4:p.Thr1496=
NM_001291860.2:c.4491G>A	NP_001278789.1:p.Thr1497=