Canonical Allele Identifier: CA673246
Gene: HSPG2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.21880742T>C
GRCh37 chr1:g.22207235T>C
Revel Score:
ENST00000374695 (MANE Select) 0.073
gnomAD v2:
1:22207235 T / C
gnomAD v3:
1:21880742 T / C
gnomAD v4:
chr1-21880742-T-C
Joint Max Group AF 0.99814146 (NFE)
Genomes Max Group AF 0.99314486 (NFE)
Exomes Max Group AF 0.99810852 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21880742T>C , CM000663.2:g.21880742T>C GRCh38
NC_000001.10:g.22207235T>C , CM000663.1:g.22207235T>C GRCh37
NC_000001.9:g.22079822T>C NCBI36
NG_016740.1:g.61516A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374695.8:c.1912A>G MANE Select ENSP00000363827.3:p.Met638Val
ENST00000374695.7:c.1912A>G ENSP00000363827.3:p.Met638Val
NM_001291860.1:c.1915A>G NP_001278789.1:p.Met639Val
NM_005529.6:c.1912A>G NP_005520.4:p.Met638Val
XM_006710594.2:c.1963A>G XP_006710657.1:p.Met655Val
XM_006710595.2:c.1915A>G XP_006710658.1:p.Met639Val
XM_006710596.2:c.1966A>G XP_006710659.1:p.Met656Val
XM_006710597.2:c.1912A>G XP_006710660.1:p.Met638Val
XM_011541317.1:c.1966A>G XP_011539619.1:p.Met656Val
XM_011541318.1:c.1966A>G XP_011539620.1:p.Met656Val
XM_011541319.1:c.1966A>G XP_011539621.1:p.Met656Val
XM_011541320.1:c.1966A>G XP_011539622.1:p.Met656Val
XM_011541321.1:c.1966A>G XP_011539623.1:p.Met656Val
XM_011541322.1:c.1966A>G XP_011539624.1:p.Met656Val
XM_011541318.2:c.1966A>G XP_011539620.1:p.Met656Val
XM_017001120.1:c.2107A>G XP_016856609.1:p.Met703Val
XM_017001121.1:c.2056A>G XP_016856610.1:p.Met686Val
XM_017001122.1:c.2053A>G XP_016856611.1:p.Met685Val
NM_005529.7:c.1912A>G MANE Select NP_005520.4:p.Met638Val
NM_001291860.2:c.1915A>G NP_001278789.1:p.Met639Val
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