Canonical Allele Identifier: CA670628

Gene: HSPG2

Linked Data

• ClinVar Variation Id: 295767
• ClinVar RCV Id: RCV000322836 ; RCV000265382 ; RCV000731075 ; RCV002520431 ; RCV002252089
• dbSNP Id: rs143274889
• ExAC: 1:22169274 C / T
• gnomAD v2: 1-22169274-C-T
• gnomAD v3: 1-21842781-C-T
• gnomAD v4: 1-21842781-C-T
• MyVariant Identifiers: chr1:g.22169274C>T (hg19) ; chr1:g.21842781C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21842781C>T , CM000663.2:g.21842781C>T	GRCh38
NC_000001.10:g.22169274C>T , CM000663.1:g.22169274C>T	GRCh37
NC_000001.9:g.22041861C>T	NCBI36
NG_016740.1:g.99477G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.8899G>A MANE Select	ENSP00000363827.3:p.Ala2967Thr
ENST00000374695.7:c.8899G>A	ENSP00000363827.3:p.Ala2967Thr
NM_001291860.1:c.8902G>A	NP_001278789.1:p.Ala2968Thr
NM_005529.6:c.8899G>A	NP_005520.4:p.Ala2967Thr
XM_006710594.2:c.9445G>A	XP_006710657.1:p.Ala3149Thr
XM_006710595.2:c.9397G>A	XP_006710658.1:p.Ala3133Thr
XM_006710596.2:c.9376G>A	XP_006710659.1:p.Ala3126Thr
XM_006710597.2:c.8899G>A	XP_006710660.1:p.Ala2967Thr
XM_011541317.1:c.9448G>A	XP_011539619.1:p.Ala3150Thr
XM_011541318.1:c.9448G>A	XP_011539620.1:p.Ala3150Thr
XM_011541319.1:c.9448G>A	XP_011539621.1:p.Ala3150Thr
XM_011541320.1:c.9169G>A	XP_011539622.1:p.Ala3057Thr
XM_011541321.1:c.8953G>A	XP_011539623.1:p.Ala2985Thr
XM_011541318.2:c.9448G>A	XP_011539620.1:p.Ala3150Thr
XM_017001120.1:c.9094G>A	XP_016856609.1:p.Ala3032Thr
XM_017001121.1:c.9043G>A	XP_016856610.1:p.Ala3015Thr
XM_017001122.1:c.9040G>A	XP_016856611.1:p.Ala3014Thr
NM_005529.7:c.8899G>A MANE Select	NP_005520.4:p.Ala2967Thr
NM_001291860.2:c.8902G>A	NP_001278789.1:p.Ala2968Thr