Canonical Allele Identifier: CA669845
Gene: HSPG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21831710C>T , CM000663.2:g.21831710C>T GRCh38
NC_000001.10:g.22158203C>T , CM000663.1:g.22158203C>T GRCh37
NC_000001.9:g.22030790C>T NCBI36
NG_016740.1:g.110548G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374695.8:c.11294G>A MANE Select ENSP00000363827.3:p.Ser3765Asn
ENST00000374695.7:c.11294G>A ENSP00000363827.3:p.Ser3765Asn
ENST00000635682.1:c.445G>A
NM_001291860.1:c.11297G>A NP_001278789.1:p.Ser3766Asn
NM_005529.6:c.11294G>A NP_005520.4:p.Ser3765Asn
XM_006710594.2:c.11858G>A XP_006710657.1:p.Ser3953Asn
XM_006710595.2:c.11810G>A XP_006710658.1:p.Ser3937Asn
XM_006710596.2:c.11789G>A XP_006710659.1:p.Ser3930Asn
XM_006710597.2:c.11312G>A XP_006710660.1:p.Ser3771Asn
XM_011541317.1:c.11861G>A XP_011539619.1:p.Ser3954Asn
XM_011541318.1:c.11843G>A XP_011539620.1:p.Ser3948Asn
XM_011541319.1:c.11861G>A XP_011539621.1:p.Ser3954Asn
XM_011541320.1:c.11582G>A XP_011539622.1:p.Ser3861Asn
XM_011541321.1:c.11366G>A XP_011539623.1:p.Ser3789Asn
XM_011541318.2:c.11843G>A XP_011539620.1:p.Ser3948Asn
XM_017001120.1:c.11489G>A XP_016856609.1:p.Ser3830Asn
XM_017001121.1:c.11438G>A XP_016856610.1:p.Ser3813Asn
XM_017001122.1:c.11435G>A XP_016856611.1:p.Ser3812Asn
NM_005529.7:c.11294G>A MANE Select NP_005520.4:p.Ser3765Asn
NM_001291860.2:c.11297G>A NP_001278789.1:p.Ser3766Asn