Canonical Allele Identifier: CA672124

Gene: HSPG2

Linked Data

• ClinVar Variation Id: 295836
• ClinVar RCV Id: RCV000263287 ; RCV000355506 ; RCV002522113 ; RCV002494920
• dbSNP Id: rs368801694
• ExAC: 1:22188302 C / T
• gnomAD v2: 1-22188302-C-T
• gnomAD v3: 1-21861809-C-T
• gnomAD v4: 1-21861809-C-T
• MyVariant Identifiers: chr1:g.22188302C>T (hg19) ; chr1:g.21861809C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21861809C>T , CM000663.2:g.21861809C>T	GRCh38
NC_000001.10:g.22188302C>T , CM000663.1:g.22188302C>T	GRCh37
NC_000001.9:g.22060889C>T	NCBI36
NG_016740.1:g.80449G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.4903G>A MANE Select	ENSP00000363827.3:p.Gly1635Arg
ENST00000374695.7:c.4903G>A	ENSP00000363827.3:p.Gly1635Arg
NM_001291860.1:c.4906G>A	NP_001278789.1:p.Gly1636Arg
NM_005529.6:c.4903G>A	NP_005520.4:p.Gly1635Arg
XM_006710594.2:c.5449G>A	XP_006710657.1:p.Gly1817Arg
XM_006710595.2:c.5401G>A	XP_006710658.1:p.Gly1801Arg
XM_006710596.2:c.5380G>A	XP_006710659.1:p.Gly1794Arg
XM_006710597.2:c.4903G>A	XP_006710660.1:p.Gly1635Arg
XM_011541317.1:c.5452G>A	XP_011539619.1:p.Gly1818Arg
XM_011541318.1:c.5452G>A	XP_011539620.1:p.Gly1818Arg
XM_011541319.1:c.5452G>A	XP_011539621.1:p.Gly1818Arg
XM_011541320.1:c.5452G>A	XP_011539622.1:p.Gly1818Arg
XM_011541321.1:c.4957G>A	XP_011539623.1:p.Gly1653Arg
XM_011541322.1:c.5452G>A	XP_011539624.1:p.Gly1818Arg
XM_011541318.2:c.5452G>A	XP_011539620.1:p.Gly1818Arg
XM_017001120.1:c.5098G>A	XP_016856609.1:p.Gly1700Arg
XM_017001121.1:c.5047G>A	XP_016856610.1:p.Gly1683Arg
XM_017001122.1:c.5044G>A	XP_016856611.1:p.Gly1682Arg
NM_005529.7:c.4903G>A MANE Select	NP_005520.4:p.Gly1635Arg
NM_001291860.2:c.4906G>A	NP_001278789.1:p.Gly1636Arg