Canonical Allele Identifier: CA672795

Gene: HSPG2

Linked Data

• ClinVar Variation Id: 295871
• ClinVar RCV Id: RCV000276512 ; RCV000326903 ; RCV003765725
• dbSNP Id: rs369278427
• ExAC: 1:22202708 C / T
• gnomAD v2: 1-22202708-C-T
• gnomAD v3: 1-21876215-C-T
• gnomAD v4: 1-21876215-C-T
• MyVariant Identifiers: chr1:g.22202708C>T (hg19) ; chr1:g.21876215C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21876215C>T , CM000663.2:g.21876215C>T	GRCh38
NC_000001.10:g.22202708C>T , CM000663.1:g.22202708C>T	GRCh37
NC_000001.9:g.22075295C>T	NCBI36
NG_016740.1:g.66043G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.3003+14G>A MANE Select	ENSP00000363827.3:n.3003+14G>A
ENST00000374695.7:c.3003+14G>A	ENSP00000363827.3:n.3003+14G>A
NM_001291860.1:c.3006+14G>A	NP_001278789.1:n.3006+14G>A
NM_005529.6:c.3003+14G>A	NP_005520.4:n.3003+14G>A
XM_006710594.2:c.3054+14G>A	XP_006710657.1:n.3054+14G>A
XM_006710595.2:c.3006+14G>A	XP_006710658.1:n.3006+14G>A
XM_006710596.2:c.3057+14G>A	XP_006710659.1:n.3057+14G>A
XM_006710597.2:c.3003+14G>A	XP_006710660.1:n.3003+14G>A
XM_011541317.1:c.3057+14G>A	XP_011539619.1:n.3057+14G>A
XM_011541318.1:c.3057+14G>A	XP_011539620.1:n.3057+14G>A
XM_011541319.1:c.3057+14G>A	XP_011539621.1:n.3057+14G>A
XM_011541320.1:c.3057+14G>A	XP_011539622.1:n.3057+14G>A
XM_011541321.1:c.3057+14G>A	XP_011539623.1:n.3057+14G>A
XM_011541322.1:c.3057+14G>A	XP_011539624.1:n.3057+14G>A
XM_011541318.2:c.3057+14G>A	XP_011539620.1:n.3057+14G>A
XM_017001120.1:c.3198+14G>A	XP_016856609.1:n.3198+14G>A
XM_017001121.1:c.3147+14G>A	XP_016856610.1:n.3147+14G>A
XM_017001122.1:c.3144+14G>A	XP_016856611.1:n.3144+14G>A
NM_005529.7:c.3003+14G>A MANE Select	NP_005520.4:n.3003+14G>A
NM_001291860.2:c.3006+14G>A	NP_001278789.1:n.3006+14G>A