Canonical Allele Identifier: CA201276

Gene: HSPG2

Linked Data

• ClinVar Variation Id: 194641
• ClinVar RCV Id: RCV000175061 ; RCV000352369 ; RCV000388323 ; RCV000757384 ; RCV002277349
• dbSNP Id: rs143669458
• ExAC: 1:22206977 C / T
• gnomAD v2: 1-22206977-C-T
• gnomAD v3: 1-21880484-C-T
• gnomAD v4: 1-21880484-C-T
• MyVariant Identifiers: chr1:g.22206977C>T (hg19) ; chr1:g.21880484C>T (hg38)
• PubMed: PMID:24781210 ; PMID:25504735

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21880484C>T , CM000663.2:g.21880484C>T	GRCh38
NC_000001.10:g.22206977C>T , CM000663.1:g.22206977C>T	GRCh37
NC_000001.9:g.22079564C>T	NCBI36
NG_016740.1:g.61774G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.2074G>A MANE Select	ENSP00000363827.3:p.Val692Met
ENST00000374695.7:c.2074G>A	ENSP00000363827.3:p.Val692Met
NM_001291860.1:c.2077G>A	NP_001278789.1:p.Val693Met
NM_005529.6:c.2074G>A	NP_005520.4:p.Val692Met
XM_006710594.2:c.2125G>A	XP_006710657.1:p.Val709Met
XM_006710595.2:c.2077G>A	XP_006710658.1:p.Val693Met
XM_006710596.2:c.2128G>A	XP_006710659.1:p.Val710Met
XM_006710597.2:c.2074G>A	XP_006710660.1:p.Val692Met
XM_011541317.1:c.2128G>A	XP_011539619.1:p.Val710Met
XM_011541318.1:c.2128G>A	XP_011539620.1:p.Val710Met
XM_011541319.1:c.2128G>A	XP_011539621.1:p.Val710Met
XM_011541320.1:c.2128G>A	XP_011539622.1:p.Val710Met
XM_011541321.1:c.2128G>A	XP_011539623.1:p.Val710Met
XM_011541322.1:c.2128G>A	XP_011539624.1:p.Val710Met
XM_011541318.2:c.2128G>A	XP_011539620.1:p.Val710Met
XM_017001120.1:c.2269G>A	XP_016856609.1:p.Val757Met
XM_017001121.1:c.2218G>A	XP_016856610.1:p.Val740Met
XM_017001122.1:c.2215G>A	XP_016856611.1:p.Val739Met
NM_005529.7:c.2074G>A MANE Select	NP_005520.4:p.Val692Met
NM_001291860.2:c.2077G>A	NP_001278789.1:p.Val693Met