Canonical Allele Identifier: CA671754
Gene: HSPG2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.21855402C>T
GRCh37 chr1:g.22181895C>T
Revel Score:
ENST00000374695 (MANE Select) 0.236
gnomAD v2:
1:22181895 C / T
gnomAD v3:
1:21855402 C / T
gnomAD v4:
chr1-21855402-C-T
Joint Max Group AF 0.10710881 (SAS)
Genomes Max Group AF 0.09738126 (SAS)
Exomes Max Group AF 0.1072798 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21855402C>T , CM000663.2:g.21855402C>T GRCh38
NC_000001.10:g.22181895C>T , CM000663.1:g.22181895C>T GRCh37
NC_000001.9:g.22054482C>T NCBI36
NG_016740.1:g.86856G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374695.8:c.5899G>A MANE Select ENSP00000363827.3:p.Val1967Ile
ENST00000374695.7:c.5899G>A ENSP00000363827.3:p.Val1967Ile
NM_001291860.1:c.5902G>A NP_001278789.1:p.Val1968Ile
NM_005529.6:c.5899G>A NP_005520.4:p.Val1967Ile
XM_006710594.2:c.6445G>A XP_006710657.1:p.Val2149Ile
XM_006710595.2:c.6397G>A XP_006710658.1:p.Val2133Ile
XM_006710596.2:c.6376G>A XP_006710659.1:p.Val2126Ile
XM_006710597.2:c.5899G>A XP_006710660.1:p.Val1967Ile
XM_011541317.1:c.6448G>A XP_011539619.1:p.Val2150Ile
XM_011541318.1:c.6448G>A XP_011539620.1:p.Val2150Ile
XM_011541319.1:c.6448G>A XP_011539621.1:p.Val2150Ile
XM_011541320.1:c.6448G>A XP_011539622.1:p.Val2150Ile
XM_011541321.1:c.5953G>A XP_011539623.1:p.Val1985Ile
XM_011541322.1:c.6448G>A XP_011539624.1:p.Val2150Ile
XM_011541318.2:c.6448G>A XP_011539620.1:p.Val2150Ile
XM_017001120.1:c.6094G>A XP_016856609.1:p.Val2032Ile
XM_017001121.1:c.6043G>A XP_016856610.1:p.Val2015Ile
XM_017001122.1:c.6040G>A XP_016856611.1:p.Val2014Ile
NM_005529.7:c.5899G>A MANE Select NP_005520.4:p.Val1967Ile
NM_001291860.2:c.5902G>A NP_001278789.1:p.Val1968Ile
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