Canonical Allele Identifier: CA1158133834
Gene: HSPG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21841723C>A , CM000663.2:g.21841723C>A GRCh38
NC_000001.10:g.22168216C>A , CM000663.1:g.22168216C>A GRCh37
NC_000001.9:g.22040803C>A NCBI36
NG_016740.1:g.100535G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374695.8:c.9194-50G>T MANE Select ENSP00000363827.3:n.9194-50G>T
ENST00000374695.7:c.9194-50G>T ENSP00000363827.3:n.9194-50G>T
NM_001291860.1:c.9197-50G>T NP_001278789.1:n.9197-50G>T
NM_005529.6:c.9194-50G>T NP_005520.4:n.9194-50G>T
XM_006710594.2:c.9740-50G>T XP_006710657.1:n.9740-50G>T
XM_006710595.2:c.9692-50G>T XP_006710658.1:n.9692-50G>T
XM_006710596.2:c.9671-50G>T XP_006710659.1:n.9671-50G>T
XM_006710597.2:c.9194-50G>T XP_006710660.1:n.9194-50G>T
XM_011541317.1:c.9743-50G>T XP_011539619.1:n.9743-50G>T
XM_011541318.1:c.9743-50G>T XP_011539620.1:n.9743-50G>T
XM_011541319.1:c.9743-50G>T XP_011539621.1:n.9743-50G>T
XM_011541320.1:c.9464-50G>T XP_011539622.1:n.9464-50G>T
XM_011541321.1:c.9248-50G>T XP_011539623.1:n.9248-50G>T
XM_011541318.2:c.9743-50G>T XP_011539620.1:n.9743-50G>T
XM_017001120.1:c.9389-50G>T XP_016856609.1:n.9389-50G>T
XM_017001121.1:c.9338-50G>T XP_016856610.1:n.9338-50G>T
XM_017001122.1:c.9335-50G>T XP_016856611.1:n.9335-50G>T
NM_005529.7:c.9194-50G>T MANE Select NP_005520.4:n.9194-50G>T
NM_001291860.2:c.9197-50G>T NP_001278789.1:n.9197-50G>T