Canonical Allele Identifier: CA1158130884
Gene: HSPG2 HGNC NCBI

Linked Data

dbSNP Id: rs2098017223
gnomAD v3: 1-21834277-T-G
gnomAD v4: 1-21834277-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21834277T>G , CM000663.2:g.21834277T>G GRCh38
NC_000001.10:g.22160770T>G , CM000663.1:g.22160770T>G GRCh37
NC_000001.9:g.22033357T>G NCBI36
NG_016740.1:g.107981A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374695.8:c.10721-352A>C MANE Select ENSP00000363827.3:n.10721-352A>C
ENST00000374695.7:c.10721-352A>C ENSP00000363827.3:n.10721-352A>C
ENST00000471322.2:n.1076-352A>C
NM_001291860.1:c.10724-352A>C NP_001278789.1:n.10724-352A>C
NM_005529.6:c.10721-352A>C NP_005520.4:n.10721-352A>C
XM_006710594.2:c.11267-352A>C XP_006710657.1:n.11267-352A>C
XM_006710595.2:c.11219-352A>C XP_006710658.1:n.11219-352A>C
XM_006710596.2:c.11198-352A>C XP_006710659.1:n.11198-352A>C
XM_006710597.2:c.10721-352A>C XP_006710660.1:n.10721-352A>C
XM_011541317.1:c.11270-352A>C XP_011539619.1:n.11270-352A>C
XM_011541318.1:c.11270-352A>C XP_011539620.1:n.11270-352A>C
XM_011541319.1:c.11270-352A>C XP_011539621.1:n.11270-352A>C
XM_011541320.1:c.10991-352A>C XP_011539622.1:n.10991-352A>C
XM_011541321.1:c.10775-352A>C XP_011539623.1:n.10775-352A>C
XM_011541318.2:c.11270-352A>C XP_011539620.1:n.11270-352A>C
XM_017001120.1:c.10916-352A>C XP_016856609.1:n.10916-352A>C
XM_017001121.1:c.10865-352A>C XP_016856610.1:n.10865-352A>C
XM_017001122.1:c.10862-352A>C XP_016856611.1:n.10862-352A>C
NM_005529.7:c.10721-352A>C MANE Select NP_005520.4:n.10721-352A>C
NM_001291860.2:c.10724-352A>C NP_001278789.1:n.10724-352A>C