Canonical Allele Identifier: CA670399

Gene: HSPG2

Linked Data

• ClinVar Variation Id: 295756
• ClinVar RCV Id: RCV000274765 ; RCV000367014 ; RCV000414737 ; RCV001348418 ; RCV004543166 ; RCV002522108
• dbSNP Id: rs149644947
• ExAC: 1:22166460 C / G
• gnomAD v2: 1-22166460-C-G
• gnomAD v3: 1-21839967-C-G
• gnomAD v4: 1-21839967-C-G
• MyVariant Identifiers: chr1:g.22166460C>G (hg19) ; chr1:g.21839967C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21839967C>G , CM000663.2:g.21839967C>G	GRCh38
NC_000001.10:g.22166460C>G , CM000663.1:g.22166460C>G	GRCh37
NC_000001.9:g.22039047C>G	NCBI36
NG_016740.1:g.102291G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.9564G>C MANE Select	ENSP00000363827.3:p.Gln3188His
ENST00000374695.7:c.9564G>C	ENSP00000363827.3:p.Gln3188His
NM_001291860.1:c.9567G>C	NP_001278789.1:p.Gln3189His
NM_005529.6:c.9564G>C	NP_005520.4:p.Gln3188His
XM_006710594.2:c.10110G>C	XP_006710657.1:p.Gln3370His
XM_006710595.2:c.10062G>C	XP_006710658.1:p.Gln3354His
XM_006710596.2:c.10041G>C	XP_006710659.1:p.Gln3347His
XM_006710597.2:c.9564G>C	XP_006710660.1:p.Gln3188His
XM_011541317.1:c.10113G>C	XP_011539619.1:p.Gln3371His
XM_011541318.1:c.10113G>C	XP_011539620.1:p.Gln3371His
XM_011541319.1:c.10113G>C	XP_011539621.1:p.Gln3371His
XM_011541320.1:c.9834G>C	XP_011539622.1:p.Gln3278His
XM_011541321.1:c.9618G>C	XP_011539623.1:p.Gln3206His
XM_011541318.2:c.10113G>C	XP_011539620.1:p.Gln3371His
XM_017001120.1:c.9759G>C	XP_016856609.1:p.Gln3253His
XM_017001121.1:c.9708G>C	XP_016856610.1:p.Gln3236His
XM_017001122.1:c.9705G>C	XP_016856611.1:p.Gln3235His
NM_005529.7:c.9564G>C MANE Select	NP_005520.4:p.Gln3188His
NM_001291860.2:c.9567G>C	NP_001278789.1:p.Gln3189His