Canonical Allele Identifier: CA670336

Gene: HSPG2

Linked Data

• ClinVar Variation Id: 295752
• ClinVar RCV Id: RCV000303142 ; RCV000399869 ; RCV001302602 ; RCV004021423
• dbSNP Id: rs202018841
• ExAC: 1:22165983 C / T
• gnomAD v2: 1-22165983-C-T
• gnomAD v3: 1-21839490-C-T
• gnomAD v4: 1-21839490-C-T
• MyVariant Identifiers: chr1:g.22165983C>T (hg19) ; chr1:g.21839490C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21839490C>T , CM000663.2:g.21839490C>T	GRCh38
NC_000001.10:g.22165983C>T , CM000663.1:g.22165983C>T	GRCh37
NC_000001.9:g.22038570C>T	NCBI36
NG_016740.1:g.102768G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.9770G>A MANE Select	ENSP00000363827.3:p.Arg3257Gln
ENST00000374695.7:c.9770G>A	ENSP00000363827.3:p.Arg3257Gln
NM_001291860.1:c.9773G>A	NP_001278789.1:p.Arg3258Gln
NM_005529.6:c.9770G>A	NP_005520.4:p.Arg3257Gln
XM_006710594.2:c.10316G>A	XP_006710657.1:p.Arg3439Gln
XM_006710595.2:c.10268G>A	XP_006710658.1:p.Arg3423Gln
XM_006710596.2:c.10247G>A	XP_006710659.1:p.Arg3416Gln
XM_006710597.2:c.9770G>A	XP_006710660.1:p.Arg3257Gln
XM_011541317.1:c.10319G>A	XP_011539619.1:p.Arg3440Gln
XM_011541318.1:c.10319G>A	XP_011539620.1:p.Arg3440Gln
XM_011541319.1:c.10319G>A	XP_011539621.1:p.Arg3440Gln
XM_011541320.1:c.10040G>A	XP_011539622.1:p.Arg3347Gln
XM_011541321.1:c.9824G>A	XP_011539623.1:p.Arg3275Gln
XM_011541318.2:c.10319G>A	XP_011539620.1:p.Arg3440Gln
XM_017001120.1:c.9965G>A	XP_016856609.1:p.Arg3322Gln
XM_017001121.1:c.9914G>A	XP_016856610.1:p.Arg3305Gln
XM_017001122.1:c.9911G>A	XP_016856611.1:p.Arg3304Gln
NM_005529.7:c.9770G>A MANE Select	NP_005520.4:p.Arg3257Gln
NM_001291860.2:c.9773G>A	NP_001278789.1:p.Arg3258Gln