Canonical Allele Identifier: CA250356

Gene: HSPG2

Linked Data

• ClinVar Variation Id: 209161
• ClinVar RCV Id: RCV000191094 ; RCV000883656 ; RCV001098138 ; RCV002277446
• dbSNP Id: rs143736974
• ExAC: 1:22205601 T / C
• gnomAD v2: 1-22205601-T-C
• gnomAD v3: 1-21879108-T-C
• gnomAD v4: 1-21879108-T-C
• MyVariant Identifiers: chr1:g.22205601T>C (hg19) ; chr1:g.21879108T>C (hg38)
• PubMed: PMID:24088041 ; PMID:25504735 ; PMID:26633545

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21879108T>C , CM000663.2:g.21879108T>C	GRCh38
NC_000001.10:g.22205601T>C , CM000663.1:g.22205601T>C	GRCh37
NC_000001.9:g.22078188T>C	NCBI36
NG_016740.1:g.63150A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.2357A>G MANE Select	ENSP00000363827.3:p.Asn786Ser
ENST00000374695.7:c.2357A>G	ENSP00000363827.3:p.Asn786Ser
NM_001291860.1:c.2360A>G	NP_001278789.1:p.Asn787Ser
NM_005529.6:c.2357A>G	NP_005520.4:p.Asn786Ser
XM_006710594.2:c.2408A>G	XP_006710657.1:p.Asn803Ser
XM_006710595.2:c.2360A>G	XP_006710658.1:p.Asn787Ser
XM_006710596.2:c.2411A>G	XP_006710659.1:p.Asn804Ser
XM_006710597.2:c.2357A>G	XP_006710660.1:p.Asn786Ser
XM_011541317.1:c.2411A>G	XP_011539619.1:p.Asn804Ser
XM_011541318.1:c.2411A>G	XP_011539620.1:p.Asn804Ser
XM_011541319.1:c.2411A>G	XP_011539621.1:p.Asn804Ser
XM_011541320.1:c.2411A>G	XP_011539622.1:p.Asn804Ser
XM_011541321.1:c.2411A>G	XP_011539623.1:p.Asn804Ser
XM_011541322.1:c.2411A>G	XP_011539624.1:p.Asn804Ser
XM_011541318.2:c.2411A>G	XP_011539620.1:p.Asn804Ser
XM_017001120.1:c.2552A>G	XP_016856609.1:p.Asn851Ser
XM_017001121.1:c.2501A>G	XP_016856610.1:p.Asn834Ser
XM_017001122.1:c.2498A>G	XP_016856611.1:p.Asn833Ser
NM_005529.7:c.2357A>G MANE Select	NP_005520.4:p.Asn786Ser
NM_001291860.2:c.2360A>G	NP_001278789.1:p.Asn787Ser