Canonical Allele Identifier: CA671046

Gene: HSPG2

Linked Data

• ClinVar Variation Id: 284844
• ClinVar RCV Id: RCV000280103 ; RCV000332928 ; RCV000372364 ; RCV004535333 ; RCV004021166
• dbSNP Id: rs147286334
• ExAC: 1:22174498 C / T
• gnomAD v2: 1-22174498-C-T
• gnomAD v3: 1-21848005-C-T
• gnomAD v4: 1-21848005-C-T
• MyVariant Identifiers: chr1:g.22174498C>T (hg19) ; chr1:g.21848005C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21848005C>T , CM000663.2:g.21848005C>T	GRCh38
NC_000001.10:g.22174498C>T , CM000663.1:g.22174498C>T	GRCh37
NC_000001.9:g.22047085C>T	NCBI36
NG_016740.1:g.94253G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.7826G>A MANE Select	ENSP00000363827.3:p.Arg2609Gln
ENST00000374695.7:c.7826G>A	ENSP00000363827.3:p.Arg2609Gln
NM_001291860.1:c.7829G>A	NP_001278789.1:p.Arg2610Gln
NM_005529.6:c.7826G>A	NP_005520.4:p.Arg2609Gln
XM_006710594.2:c.8372G>A	XP_006710657.1:p.Arg2791Gln
XM_006710595.2:c.8324G>A	XP_006710658.1:p.Arg2775Gln
XM_006710596.2:c.8303G>A	XP_006710659.1:p.Arg2768Gln
XM_006710597.2:c.7826G>A	XP_006710660.1:p.Arg2609Gln
XM_011541317.1:c.8375G>A	XP_011539619.1:p.Arg2792Gln
XM_011541318.1:c.8375G>A	XP_011539620.1:p.Arg2792Gln
XM_011541319.1:c.8375G>A	XP_011539621.1:p.Arg2792Gln
XM_011541320.1:c.8096G>A	XP_011539622.1:p.Arg2699Gln
XM_011541321.1:c.7880G>A	XP_011539623.1:p.Arg2627Gln
XM_011541318.2:c.8375G>A	XP_011539620.1:p.Arg2792Gln
XM_017001120.1:c.8021G>A	XP_016856609.1:p.Arg2674Gln
XM_017001121.1:c.7970G>A	XP_016856610.1:p.Arg2657Gln
XM_017001122.1:c.7967G>A	XP_016856611.1:p.Arg2656Gln
NM_005529.7:c.7826G>A MANE Select	NP_005520.4:p.Arg2609Gln
NM_001291860.2:c.7829G>A	NP_001278789.1:p.Arg2610Gln