Canonical Allele Identifier: CA672326
Gene: HSPG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 295847
dbSNP Id: rs768475262
gnomAD v2: 1-22192225-G-A
gnomAD v3: 1-21865732-G-A
gnomAD v4: 1-21865732-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21865732G>A , CM000663.2:g.21865732G>A GRCh38
NC_000001.10:g.22192225G>A , CM000663.1:g.22192225G>A GRCh37
NC_000001.9:g.22064812G>A NCBI36
NG_016740.1:g.76526C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374695.8:c.4299C>T MANE Select ENSP00000363827.3:p.Pro1433=
ENST00000644714.1:c.693C>T ENSP00000496473.1:p.Pro231=
ENST00000374695.7:c.4299C>T ENSP00000363827.3:p.Pro1433=
NM_001291860.1:c.4302C>T NP_001278789.1:p.Pro1434=
NM_005529.6:c.4299C>T NP_005520.4:p.Pro1433=
XM_006710594.2:c.4845C>T XP_006710657.1:p.Pro1615=
XM_006710595.2:c.4797C>T XP_006710658.1:p.Pro1599=
XM_006710596.2:c.4776C>T XP_006710659.1:p.Pro1592=
XM_006710597.2:c.4299C>T XP_006710660.1:p.Pro1433=
XM_011541317.1:c.4848C>T XP_011539619.1:p.Pro1616=
XM_011541318.1:c.4848C>T XP_011539620.1:p.Pro1616=
XM_011541319.1:c.4848C>T XP_011539621.1:p.Pro1616=
XM_011541320.1:c.4848C>T XP_011539622.1:p.Pro1616=
XM_011541321.1:c.4353C>T XP_011539623.1:p.Pro1451=
XM_011541322.1:c.4848C>T XP_011539624.1:p.Pro1616=
XM_011541318.2:c.4848C>T XP_011539620.1:p.Pro1616=
XM_017001120.1:c.4494C>T XP_016856609.1:p.Pro1498=
XM_017001121.1:c.4443C>T XP_016856610.1:p.Pro1481=
XM_017001122.1:c.4440C>T XP_016856611.1:p.Pro1480=
NM_005529.7:c.4299C>T MANE Select NP_005520.4:p.Pro1433=
NM_001291860.2:c.4302C>T NP_001278789.1:p.Pro1434=