Canonical Allele Identifier: CA669606

Gene: HSPG2

Linked Data

• ClinVar Variation Id: 295711
• ClinVar RCV Id: RCV000287593 ; RCV000347270 ; RCV000757386 ; RCV000999873 ; RCV004537645 ; RCV002278344
• dbSNP Id: rs116630187
• ExAC: 1:22156041 C / T
• gnomAD v2: 1-22156041-C-T
• gnomAD v3: 1-21829548-C-T
• gnomAD v4: 1-21829548-C-T
• MyVariant Identifiers: chr1:g.22156041C>T (hg19) ; chr1:g.21829548C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21829548C>T , CM000663.2:g.21829548C>T	GRCh38
NC_000001.10:g.22156041C>T , CM000663.1:g.22156041C>T	GRCh37
NC_000001.9:g.22028628C>T	NCBI36
NG_016740.1:g.112710G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.11827G>A MANE Select	ENSP00000363827.3:p.Ala3943Thr
ENST00000374695.7:c.11827G>A	ENSP00000363827.3:p.Ala3943Thr
ENST00000486901.1:n.1166G>A
NM_001291860.1:c.11830G>A	NP_001278789.1:p.Ala3944Thr
NM_005529.6:c.11827G>A	NP_005520.4:p.Ala3943Thr
XM_006710594.2:c.12391G>A	XP_006710657.1:p.Ala4131Thr
XM_006710595.2:c.12343G>A	XP_006710658.1:p.Ala4115Thr
XM_006710596.2:c.12322G>A	XP_006710659.1:p.Ala4108Thr
XM_006710597.2:c.11845G>A	XP_006710660.1:p.Ala3949Thr
XM_011541317.1:c.12394G>A	XP_011539619.1:p.Ala4132Thr
XM_011541318.1:c.12376G>A	XP_011539620.1:p.Ala4126Thr
XM_011541319.1:c.12394G>A	XP_011539621.1:p.Ala4132Thr
XM_011541320.1:c.12115G>A	XP_011539622.1:p.Ala4039Thr
XM_011541321.1:c.11899G>A	XP_011539623.1:p.Ala3967Thr
XM_011541318.2:c.12376G>A	XP_011539620.1:p.Ala4126Thr
XM_017001120.1:c.12022G>A	XP_016856609.1:p.Ala4008Thr
XM_017001121.1:c.11971G>A	XP_016856610.1:p.Ala3991Thr
XM_017001122.1:c.11968G>A	XP_016856611.1:p.Ala3990Thr
NM_005529.7:c.11827G>A MANE Select	NP_005520.4:p.Ala3943Thr
NM_001291860.2:c.11830G>A	NP_001278789.1:p.Ala3944Thr