Canonical Allele Identifier: CA673121
Gene: HSPG2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.21880156T>C
GRCh37 chr1:g.22206649T>C
Revel Score:
ENST00000374695 (MANE Select) 0.136
gnomAD v2:
1:22206649 T / C
gnomAD v3:
1:21880156 T / C
gnomAD v4:
chr1-21880156-T-C
Joint Max Group AF 0.99806631 (NFE)
Genomes Max Group AF 0.99298514 (NFE)
Exomes Max Group AF 0.99803966 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21880156T>C , CM000663.2:g.21880156T>C GRCh38
NC_000001.10:g.22206649T>C , CM000663.1:g.22206649T>C GRCh37
NC_000001.9:g.22079236T>C NCBI36
NG_016740.1:g.62102A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374695.8:c.2294A>G MANE Select ENSP00000363827.3:p.Asn765Ser
ENST00000374695.7:c.2294A>G ENSP00000363827.3:p.Asn765Ser
NM_001291860.1:c.2297A>G NP_001278789.1:p.Asn766Ser
NM_005529.6:c.2294A>G NP_005520.4:p.Asn765Ser
XM_006710594.2:c.2345A>G XP_006710657.1:p.Asn782Ser
XM_006710595.2:c.2297A>G XP_006710658.1:p.Asn766Ser
XM_006710596.2:c.2348A>G XP_006710659.1:p.Asn783Ser
XM_006710597.2:c.2294A>G XP_006710660.1:p.Asn765Ser
XM_011541317.1:c.2348A>G XP_011539619.1:p.Asn783Ser
XM_011541318.1:c.2348A>G XP_011539620.1:p.Asn783Ser
XM_011541319.1:c.2348A>G XP_011539621.1:p.Asn783Ser
XM_011541320.1:c.2348A>G XP_011539622.1:p.Asn783Ser
XM_011541321.1:c.2348A>G XP_011539623.1:p.Asn783Ser
XM_011541322.1:c.2348A>G XP_011539624.1:p.Asn783Ser
XM_011541318.2:c.2348A>G XP_011539620.1:p.Asn783Ser
XM_017001120.1:c.2489A>G XP_016856609.1:p.Asn830Ser
XM_017001121.1:c.2438A>G XP_016856610.1:p.Asn813Ser
XM_017001122.1:c.2435A>G XP_016856611.1:p.Asn812Ser
NM_005529.7:c.2294A>G MANE Select NP_005520.4:p.Asn765Ser
NM_001291860.2:c.2297A>G NP_001278789.1:p.Asn766Ser
Search 100 bp 5'
Search 100 bp 3'