Canonical Allele Identifier: CA672197

Gene: HSPG2

Linked Data

• ClinVar Variation Id: 295841
• ClinVar RCV Id: RCV000283546 ; RCV000395502 ; RCV000918538 ; RCV000517868 ; RCV002278372 ; RCV004543167
• dbSNP Id: rs148362276
• ExAC: 1:22190686 C / T
• gnomAD v2: 1-22190686-C-T
• gnomAD v3: 1-21864193-C-T
• gnomAD v4: 1-21864193-C-T
• MyVariant Identifiers: chr1:g.22190686C>T (hg19) ; chr1:g.21864193C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21864193C>T , CM000663.2:g.21864193C>T	GRCh38
NC_000001.10:g.22190686C>T , CM000663.1:g.22190686C>T	GRCh37
NC_000001.9:g.22063273C>T	NCBI36
NG_016740.1:g.78065G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.4647G>A MANE Select	ENSP00000363827.3:p.Thr1549=
ENST00000374695.7:c.4647G>A	ENSP00000363827.3:p.Thr1549=
NM_001291860.1:c.4650G>A	NP_001278789.1:p.Thr1550=
NM_005529.6:c.4647G>A	NP_005520.4:p.Thr1549=
XM_006710594.2:c.5193G>A	XP_006710657.1:p.Thr1731=
XM_006710595.2:c.5145G>A	XP_006710658.1:p.Thr1715=
XM_006710596.2:c.5124G>A	XP_006710659.1:p.Thr1708=
XM_006710597.2:c.4647G>A	XP_006710660.1:p.Thr1549=
XM_011541317.1:c.5196G>A	XP_011539619.1:p.Thr1732=
XM_011541318.1:c.5196G>A	XP_011539620.1:p.Thr1732=
XM_011541319.1:c.5196G>A	XP_011539621.1:p.Thr1732=
XM_011541320.1:c.5196G>A	XP_011539622.1:p.Thr1732=
XM_011541321.1:c.4701G>A	XP_011539623.1:p.Thr1567=
XM_011541322.1:c.5196G>A	XP_011539624.1:p.Thr1732=
XM_011541318.2:c.5196G>A	XP_011539620.1:p.Thr1732=
XM_017001120.1:c.4842G>A	XP_016856609.1:p.Thr1614=
XM_017001121.1:c.4791G>A	XP_016856610.1:p.Thr1597=
XM_017001122.1:c.4788G>A	XP_016856611.1:p.Thr1596=
NM_005529.7:c.4647G>A MANE Select	NP_005520.4:p.Thr1549=
NM_001291860.2:c.4650G>A	NP_001278789.1:p.Thr1550=