Canonical Allele Identifier: CA671844

Gene: HSPG2

Linked Data

• ClinVar Variation Id: 284377
• ClinVar RCV Id: RCV000278295 ; RCV000372843 ; RCV000376732 ; RCV000725443 ; RCV000765077 ; RCV004535319
• dbSNP Id: rs140954748
• ExAC: 1:22182333 G / A
• gnomAD v2: 1-22182333-G-A
• gnomAD v3: 1-21855840-G-A
• gnomAD v4: 1-21855840-G-A
• MyVariant Identifiers: chr1:g.22182333G>A (hg19) ; chr1:g.21855840G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21855840G>A , CM000663.2:g.21855840G>A	GRCh38
NC_000001.10:g.22182333G>A , CM000663.1:g.22182333G>A	GRCh37
NC_000001.9:g.22054920G>A	NCBI36
NG_016740.1:g.86418C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.5648C>T MANE Select	ENSP00000363827.3:p.Ala1883Val
ENST00000374695.7:c.5648C>T	ENSP00000363827.3:p.Ala1883Val
NM_001291860.1:c.5651C>T	NP_001278789.1:p.Ala1884Val
NM_005529.6:c.5648C>T	NP_005520.4:p.Ala1883Val
XM_006710594.2:c.6194C>T	XP_006710657.1:p.Ala2065Val
XM_006710595.2:c.6146C>T	XP_006710658.1:p.Ala2049Val
XM_006710596.2:c.6125C>T	XP_006710659.1:p.Ala2042Val
XM_006710597.2:c.5648C>T	XP_006710660.1:p.Ala1883Val
XM_011541317.1:c.6197C>T	XP_011539619.1:p.Ala2066Val
XM_011541318.1:c.6197C>T	XP_011539620.1:p.Ala2066Val
XM_011541319.1:c.6197C>T	XP_011539621.1:p.Ala2066Val
XM_011541320.1:c.6197C>T	XP_011539622.1:p.Ala2066Val
XM_011541321.1:c.5702C>T	XP_011539623.1:p.Ala1901Val
XM_011541322.1:c.6197C>T	XP_011539624.1:p.Ala2066Val
XM_011541318.2:c.6197C>T	XP_011539620.1:p.Ala2066Val
XM_017001120.1:c.5843C>T	XP_016856609.1:p.Ala1948Val
XM_017001121.1:c.5792C>T	XP_016856610.1:p.Ala1931Val
XM_017001122.1:c.5789C>T	XP_016856611.1:p.Ala1930Val
NM_005529.7:c.5648C>T MANE Select	NP_005520.4:p.Ala1883Val
NM_001291860.2:c.5651C>T	NP_001278789.1:p.Ala1884Val