Canonical Allele Identifier: CA521587734

Gene: HSPG2

Linked Data

• ClinVar Variation Id: 499769
• ClinVar RCV Id: RCV000593717 ; RCV001261555 ; RCV001824152
• dbSNP Id: rs1336552092
• gnomAD v2: 1-22158296-C-T
• gnomAD v4: 1-21831803-C-T
• MyVariant Identifiers: chr1:g.22158296C>T (hg19) ; chr1:g.21831803C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21831803C>T , CM000663.2:g.21831803C>T	GRCh38
NC_000001.10:g.22158296C>T , CM000663.1:g.22158296C>T	GRCh37
NC_000001.9:g.22030883C>T	NCBI36
NG_016740.1:g.110455G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374695.8:c.11208-7G>A MANE Select	ENSP00000363827.3:n.11208-7G>A
ENST00000374695.7:c.11208-7G>A	ENSP00000363827.3:n.11208-7G>A
ENST00000635682.1:c.359-7G>A
NM_001291860.1:c.11211-7G>A	NP_001278789.1:n.11211-7G>A
NM_005529.6:c.11208-7G>A	NP_005520.4:n.11208-7G>A
XM_006710594.2:c.11772-7G>A	XP_006710657.1:n.11772-7G>A
XM_006710595.2:c.11724-7G>A	XP_006710658.1:n.11724-7G>A
XM_006710596.2:c.11703-7G>A	XP_006710659.1:n.11703-7G>A
XM_006710597.2:c.11226-7G>A	XP_006710660.1:n.11226-7G>A
XM_011541317.1:c.11775-7G>A	XP_011539619.1:n.11775-7G>A
XM_011541318.1:c.11757-7G>A	XP_011539620.1:n.11757-7G>A
XM_011541319.1:c.11775-7G>A	XP_011539621.1:n.11775-7G>A
XM_011541320.1:c.11496-7G>A	XP_011539622.1:n.11496-7G>A
XM_011541321.1:c.11280-7G>A	XP_011539623.1:n.11280-7G>A
XM_011541318.2:c.11757-7G>A	XP_011539620.1:n.11757-7G>A
XM_017001120.1:c.11403-7G>A	XP_016856609.1:n.11403-7G>A
XM_017001121.1:c.11352-7G>A	XP_016856610.1:n.11352-7G>A
XM_017001122.1:c.11349-7G>A	XP_016856611.1:n.11349-7G>A
NM_005529.7:c.11208-7G>A MANE Select	NP_005520.4:n.11208-7G>A
NM_001291860.2:c.11211-7G>A	NP_001278789.1:n.11211-7G>A