Canonical Allele Identifier: CA673122
Gene: HSPG2 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000374695.8:c.2294A>C MANE Select ENSP00000363827.3:p.Asn765Thr
ENST00000374695.7:c.2294A>C ENSP00000363827.3:p.Asn765Thr
NM_001291860.1:c.2297A>C NP_001278789.1:p.Asn766Thr
NM_005529.6:c.2294A>C NP_005520.4:p.Asn765Thr
XM_006710594.2:c.2345A>C XP_006710657.1:p.Asn782Thr
XM_006710595.2:c.2297A>C XP_006710658.1:p.Asn766Thr
XM_006710596.2:c.2348A>C XP_006710659.1:p.Asn783Thr
XM_006710597.2:c.2294A>C XP_006710660.1:p.Asn765Thr
XM_011541317.1:c.2348A>C XP_011539619.1:p.Asn783Thr
XM_011541318.1:c.2348A>C XP_011539620.1:p.Asn783Thr
XM_011541319.1:c.2348A>C XP_011539621.1:p.Asn783Thr
XM_011541320.1:c.2348A>C XP_011539622.1:p.Asn783Thr
XM_011541321.1:c.2348A>C XP_011539623.1:p.Asn783Thr
XM_011541322.1:c.2348A>C XP_011539624.1:p.Asn783Thr
XM_011541318.2:c.2348A>C XP_011539620.1:p.Asn783Thr
XM_017001120.1:c.2489A>C XP_016856609.1:p.Asn830Thr
XM_017001121.1:c.2438A>C XP_016856610.1:p.Asn813Thr
XM_017001122.1:c.2435A>C XP_016856611.1:p.Asn812Thr
NM_005529.7:c.2294A>C MANE Select NP_005520.4:p.Asn765Thr
NM_001291860.2:c.2297A>C NP_001278789.1:p.Asn766Thr