Canonical Allele Identifier: CA203686
Gene: HSPG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21830046C>T , CM000663.2:g.21830046C>T GRCh38
NC_000001.10:g.22156539C>T , CM000663.1:g.22156539C>T GRCh37
NC_000001.9:g.22029126C>T NCBI36
NG_016740.1:g.112212G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374695.8:c.11717G>A MANE Select ENSP00000363827.3:p.Arg3906Gln
ENST00000374695.7:c.11717G>A ENSP00000363827.3:p.Arg3906Gln
ENST00000486901.1:n.668G>A
ENST00000635682.1:c.868G>A
NM_001291860.1:c.11720G>A NP_001278789.1:p.Arg3907Gln
NM_005529.6:c.11717G>A NP_005520.4:p.Arg3906Gln
XM_006710594.2:c.12281G>A XP_006710657.1:p.Arg4094Gln
XM_006710595.2:c.12233G>A XP_006710658.1:p.Arg4078Gln
XM_006710596.2:c.12212G>A XP_006710659.1:p.Arg4071Gln
XM_006710597.2:c.11735G>A XP_006710660.1:p.Arg3912Gln
XM_011541317.1:c.12284G>A XP_011539619.1:p.Arg4095Gln
XM_011541318.1:c.12266G>A XP_011539620.1:p.Arg4089Gln
XM_011541319.1:c.12284G>A XP_011539621.1:p.Arg4095Gln
XM_011541320.1:c.12005G>A XP_011539622.1:p.Arg4002Gln
XM_011541321.1:c.11789G>A XP_011539623.1:p.Arg3930Gln
XM_011541318.2:c.12266G>A XP_011539620.1:p.Arg4089Gln
XM_017001120.1:c.11912G>A XP_016856609.1:p.Arg3971Gln
XM_017001121.1:c.11861G>A XP_016856610.1:p.Arg3954Gln
XM_017001122.1:c.11858G>A XP_016856611.1:p.Arg3953Gln
NM_005529.7:c.11717G>A MANE Select NP_005520.4:p.Arg3906Gln
NM_001291860.2:c.11720G>A NP_001278789.1:p.Arg3907Gln