Canonical Allele Identifier: CA670179

Gene: HSPG2

Linked Data

• ClinVar Variation Id: 295739
• ClinVar RCV Id: RCV000291620 ; RCV000381320 ; RCV000974827 ; RCV001283519 ; RCV004543165
• dbSNP Id: rs142939330
• ExAC: 1:22163370 C / T
• gnomAD v2: 1-22163370-C-T
• gnomAD v3: 1-21836877-C-T
• gnomAD v4: 1-21836877-C-T
• MyVariant Identifiers: chr1:g.22163370C>T (hg19) ; chr1:g.21836877C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21836877C>T , CM000663.2:g.21836877C>T	GRCh38
NC_000001.10:g.22163370C>T , CM000663.1:g.22163370C>T	GRCh37
NC_000001.9:g.22035957C>T	NCBI36
NG_016740.1:g.105381G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.10280G>A MANE Select	ENSP00000363827.3:p.Arg3427Gln
ENST00000374676.4:c.183-1240G>A
ENST00000374695.7:c.10280G>A	ENSP00000363827.3:p.Arg3427Gln
ENST00000471322.2:n.41G>A
NM_001291860.1:c.10283G>A	NP_001278789.1:p.Arg3428Gln
NM_005529.6:c.10280G>A	NP_005520.4:p.Arg3427Gln
XM_006710594.2:c.10826G>A	XP_006710657.1:p.Arg3609Gln
XM_006710595.2:c.10778G>A	XP_006710658.1:p.Arg3593Gln
XM_006710596.2:c.10757G>A	XP_006710659.1:p.Arg3586Gln
XM_006710597.2:c.10280G>A	XP_006710660.1:p.Arg3427Gln
XM_011541317.1:c.10829G>A	XP_011539619.1:p.Arg3610Gln
XM_011541318.1:c.10829G>A	XP_011539620.1:p.Arg3610Gln
XM_011541319.1:c.10829G>A	XP_011539621.1:p.Arg3610Gln
XM_011541320.1:c.10550G>A	XP_011539622.1:p.Arg3517Gln
XM_011541321.1:c.10334G>A	XP_011539623.1:p.Arg3445Gln
XM_011541318.2:c.10829G>A	XP_011539620.1:p.Arg3610Gln
XM_017001120.1:c.10475G>A	XP_016856609.1:p.Arg3492Gln
XM_017001121.1:c.10424G>A	XP_016856610.1:p.Arg3475Gln
XM_017001122.1:c.10421G>A	XP_016856611.1:p.Arg3474Gln
NM_005529.7:c.10280G>A MANE Select	NP_005520.4:p.Arg3427Gln
NM_001291860.2:c.10283G>A	NP_001278789.1:p.Arg3428Gln