Canonical Allele Identifier: CA671265
Gene: HSPG2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.21850422C>T
GRCh37 chr1:g.22176915C>T
Revel Score:
ENST00000374695 (MANE Select) 0.151
gnomAD v2:
1:22176915 C / T
gnomAD v3:
1:21850422 C / T
gnomAD v4:
chr1-21850422-C-T
Joint Max Group AF 0.00139966 (NFE)
Genomes Max Group AF 0.0010348 (NFE)
Exomes Max Group AF 0.00141067 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21850422C>T , CM000663.2:g.21850422C>T GRCh38
NC_000001.10:g.22176915C>T , CM000663.1:g.22176915C>T GRCh37
NC_000001.9:g.22049502C>T NCBI36
NG_016740.1:g.91836G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374695.8:c.7235G>A MANE Select ENSP00000363827.3:p.Ser2412Asn
ENST00000374695.7:c.7235G>A ENSP00000363827.3:p.Ser2412Asn
NM_001291860.1:c.7238G>A NP_001278789.1:p.Ser2413Asn
NM_005529.6:c.7235G>A NP_005520.4:p.Ser2412Asn
XM_006710594.2:c.7781G>A XP_006710657.1:p.Ser2594Asn
XM_006710595.2:c.7733G>A XP_006710658.1:p.Ser2578Asn
XM_006710596.2:c.7712G>A XP_006710659.1:p.Ser2571Asn
XM_006710597.2:c.7235G>A XP_006710660.1:p.Ser2412Asn
XM_011541317.1:c.7784G>A XP_011539619.1:p.Ser2595Asn
XM_011541318.1:c.7784G>A XP_011539620.1:p.Ser2595Asn
XM_011541319.1:c.7784G>A XP_011539621.1:p.Ser2595Asn
XM_011541320.1:c.7505G>A XP_011539622.1:p.Ser2502Asn
XM_011541321.1:c.7289G>A XP_011539623.1:p.Ser2430Asn
XM_011541318.2:c.7784G>A XP_011539620.1:p.Ser2595Asn
XM_017001120.1:c.7430G>A XP_016856609.1:p.Ser2477Asn
XM_017001121.1:c.7379G>A XP_016856610.1:p.Ser2460Asn
XM_017001122.1:c.7376G>A XP_016856611.1:p.Ser2459Asn
NM_005529.7:c.7235G>A MANE Select NP_005520.4:p.Ser2412Asn
NM_001291860.2:c.7238G>A NP_001278789.1:p.Ser2413Asn
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