Canonical Allele Identifier: CA10610077

Gene: HSPG2

Linked Data

• ClinVar Variation Id: 295889
• ClinVar RCV Id: RCV000331762 ; RCV000386233 ; RCV003556313
• dbSNP Id: rs886046043
• gnomAD v4: 1-21884513-C-T
• MyVariant Identifiers: chr1:g.22211006C>T (hg19) ; chr1:g.21884513C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21884513C>T , CM000663.2:g.21884513C>T	GRCh38
NC_000001.10:g.22211006C>T , CM000663.1:g.22211006C>T	GRCh37
NC_000001.9:g.22083593C>T	NCBI36
NG_016740.1:g.57745G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.1654+15G>A MANE Select	ENSP00000363827.3:n.1654+15G>A
ENST00000374695.7:c.1654+15G>A	ENSP00000363827.3:n.1654+15G>A
NM_001291860.1:c.1657+15G>A	NP_001278789.1:n.1657+15G>A
NM_005529.6:c.1654+15G>A	NP_005520.4:n.1654+15G>A
XM_006710594.2:c.1705+15G>A	XP_006710657.1:n.1705+15G>A
XM_006710595.2:c.1657+15G>A	XP_006710658.1:n.1657+15G>A
XM_006710596.2:c.1708+15G>A	XP_006710659.1:n.1708+15G>A
XM_006710597.2:c.1654+15G>A	XP_006710660.1:n.1654+15G>A
XM_011541317.1:c.1708+15G>A	XP_011539619.1:n.1708+15G>A
XM_011541318.1:c.1708+15G>A	XP_011539620.1:n.1708+15G>A
XM_011541319.1:c.1708+15G>A	XP_011539621.1:n.1708+15G>A
XM_011541320.1:c.1708+15G>A	XP_011539622.1:n.1708+15G>A
XM_011541321.1:c.1708+15G>A	XP_011539623.1:n.1708+15G>A
XM_011541322.1:c.1708+15G>A	XP_011539624.1:n.1708+15G>A
XM_011541318.2:c.1708+15G>A	XP_011539620.1:n.1708+15G>A
XM_017001120.1:c.1849+15G>A	XP_016856609.1:n.1849+15G>A
XM_017001121.1:c.1798+15G>A	XP_016856610.1:n.1798+15G>A
XM_017001122.1:c.1795+15G>A	XP_016856611.1:n.1795+15G>A
NM_005529.7:c.1654+15G>A MANE Select	NP_005520.4:n.1654+15G>A
NM_001291860.2:c.1657+15G>A	NP_001278789.1:n.1657+15G>A