Canonical Allele Identifier: CA670594
Gene: HSPG2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.21842308T>C
GRCh37 chr1:g.22168801T>C
Revel Score:
ENST00000374695 (MANE Select) 0.037
gnomAD v2:
1:22168801 T / C
gnomAD v3:
1:21842308 T / C
gnomAD v4:
chr1-21842308-T-C
Joint Max Group AF 0.18154973 (AFR)
Genomes Max Group AF 0.17463398 (AFR)
Exomes Max Group AF 0.18776731 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21842308T>C , CM000663.2:g.21842308T>C GRCh38
NC_000001.10:g.22168801T>C , CM000663.1:g.22168801T>C GRCh37
NC_000001.9:g.22041388T>C NCBI36
NG_016740.1:g.99950A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374695.8:c.8983A>G MANE Select ENSP00000363827.3:p.Ser2995Gly
ENST00000374695.7:c.8983A>G ENSP00000363827.3:p.Ser2995Gly
NM_001291860.1:c.8986A>G NP_001278789.1:p.Ser2996Gly
NM_005529.6:c.8983A>G NP_005520.4:p.Ser2995Gly
XM_006710594.2:c.9529A>G XP_006710657.1:p.Ser3177Gly
XM_006710595.2:c.9481A>G XP_006710658.1:p.Ser3161Gly
XM_006710596.2:c.9460A>G XP_006710659.1:p.Ser3154Gly
XM_006710597.2:c.8983A>G XP_006710660.1:p.Ser2995Gly
XM_011541317.1:c.9532A>G XP_011539619.1:p.Ser3178Gly
XM_011541318.1:c.9532A>G XP_011539620.1:p.Ser3178Gly
XM_011541319.1:c.9532A>G XP_011539621.1:p.Ser3178Gly
XM_011541320.1:c.9253A>G XP_011539622.1:p.Ser3085Gly
XM_011541321.1:c.9037A>G XP_011539623.1:p.Ser3013Gly
XM_011541318.2:c.9532A>G XP_011539620.1:p.Ser3178Gly
XM_017001120.1:c.9178A>G XP_016856609.1:p.Ser3060Gly
XM_017001121.1:c.9127A>G XP_016856610.1:p.Ser3043Gly
XM_017001122.1:c.9124A>G XP_016856611.1:p.Ser3042Gly
NM_005529.7:c.8983A>G MANE Select NP_005520.4:p.Ser2995Gly
NM_001291860.2:c.8986A>G NP_001278789.1:p.Ser2996Gly
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