Canonical Allele Identifier: CA673672

Gene: HSPG2

Linked Data

• ClinVar Variation Id: 295904
• ClinVar RCV Id: RCV000348836 ; RCV000394379 ; RCV000711946 ; RCV000765081 ; RCV002520447
• dbSNP Id: rs139873789
• ExAC: 1:22213993 C / T
• gnomAD v2: 1-22213993-C-T
• gnomAD v3: 1-21887500-C-T
• gnomAD v4: 1-21887500-C-T
• MyVariant Identifiers: chr1:g.22213993C>T (hg19) ; chr1:g.21887500C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21887500C>T , CM000663.2:g.21887500C>T	GRCh38
NC_000001.10:g.22213993C>T , CM000663.1:g.22213993C>T	GRCh37
NC_000001.9:g.22086580C>T	NCBI36
NG_016740.1:g.54758G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374673.4:c.685G>A
ENST00000374695.8:c.878G>A MANE Select	ENSP00000363827.3:p.Arg293His
ENST00000374673.3:n.358G>A
ENST00000374695.7:c.878G>A	ENSP00000363827.3:p.Arg293His
ENST00000412328.5:n.646G>A
NM_001291860.1:c.878G>A	NP_001278789.1:p.Arg293His
NM_005529.6:c.878G>A	NP_005520.4:p.Arg293His
XM_006710594.2:c.929G>A	XP_006710657.1:p.Arg310His
XM_006710595.2:c.878G>A	XP_006710658.1:p.Arg293His
XM_006710596.2:c.929G>A	XP_006710659.1:p.Arg310His
XM_006710597.2:c.878G>A	XP_006710660.1:p.Arg293His
XM_011541317.1:c.929G>A	XP_011539619.1:p.Arg310His
XM_011541318.1:c.929G>A	XP_011539620.1:p.Arg310His
XM_011541319.1:c.929G>A	XP_011539621.1:p.Arg310His
XM_011541320.1:c.929G>A	XP_011539622.1:p.Arg310His
XM_011541321.1:c.929G>A	XP_011539623.1:p.Arg310His
XM_011541322.1:c.929G>A	XP_011539624.1:p.Arg310His
XM_011541318.2:c.929G>A	XP_011539620.1:p.Arg310His
XM_017001120.1:c.1070G>A	XP_016856609.1:p.Arg357His
XM_017001121.1:c.1019G>A	XP_016856610.1:p.Arg340His
XM_017001122.1:c.1019G>A	XP_016856611.1:p.Arg340His
NM_005529.7:c.878G>A MANE Select	NP_005520.4:p.Arg293His
NM_001291860.2:c.878G>A	NP_001278789.1:p.Arg293His