Canonical Allele Identifier: CA521589155

Gene: HSPG2

Linked Data

• dbSNP Id: rs1440320481
• gnomAD v2: 1-22160725-A-G
• gnomAD v3: 1-21834232-A-G
• gnomAD v4: 1-21834232-A-G
• MyVariant Identifiers: chr1:g.22160725A>G (hg19) ; chr1:g.21834232A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21834232A>G , CM000663.2:g.21834232A>G	GRCh38
NC_000001.10:g.22160725A>G , CM000663.1:g.22160725A>G	GRCh37
NC_000001.9:g.22033312A>G	NCBI36
NG_016740.1:g.108026T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374695.8:c.10721-307T>C MANE Select	ENSP00000363827.3:n.10721-307T>C
ENST00000374695.7:c.10721-307T>C	ENSP00000363827.3:n.10721-307T>C
ENST00000471322.2:n.1076-307T>C
NM_001291860.1:c.10724-307T>C	NP_001278789.1:n.10724-307T>C
NM_005529.6:c.10721-307T>C	NP_005520.4:n.10721-307T>C
XM_006710594.2:c.11267-307T>C	XP_006710657.1:n.11267-307T>C
XM_006710595.2:c.11219-307T>C	XP_006710658.1:n.11219-307T>C
XM_006710596.2:c.11198-307T>C	XP_006710659.1:n.11198-307T>C
XM_006710597.2:c.10721-307T>C	XP_006710660.1:n.10721-307T>C
XM_011541317.1:c.11270-307T>C	XP_011539619.1:n.11270-307T>C
XM_011541318.1:c.11270-307T>C	XP_011539620.1:n.11270-307T>C
XM_011541319.1:c.11270-307T>C	XP_011539621.1:n.11270-307T>C
XM_011541320.1:c.10991-307T>C	XP_011539622.1:n.10991-307T>C
XM_011541321.1:c.10775-307T>C	XP_011539623.1:n.10775-307T>C
XM_011541318.2:c.11270-307T>C	XP_011539620.1:n.11270-307T>C
XM_017001120.1:c.10916-307T>C	XP_016856609.1:n.10916-307T>C
XM_017001121.1:c.10865-307T>C	XP_016856610.1:n.10865-307T>C
XM_017001122.1:c.10862-307T>C	XP_016856611.1:n.10862-307T>C
NM_005529.7:c.10721-307T>C MANE Select	NP_005520.4:n.10721-307T>C
NM_001291860.2:c.10724-307T>C	NP_001278789.1:n.10724-307T>C