Canonical Allele Identifier: CA671964

Gene: HSPG2

Linked Data

• ClinVar Variation Id: 295834
• ClinVar RCV Id: RCV000304366 ; RCV000361371 ; RCV000517424 ; RCV000658125 ; RCV002278371
• dbSNP Id: rs139794766
• ExAC: 1:22183875 G / A
• gnomAD v2: 1-22183875-G-A
• gnomAD v3: 1-21857382-G-A
• gnomAD v4: 1-21857382-G-A
• MyVariant Identifiers: chr1:g.22183875G>A (hg19) ; chr1:g.21857382G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21857382G>A , CM000663.2:g.21857382G>A	GRCh38
NC_000001.10:g.22183875G>A , CM000663.1:g.22183875G>A	GRCh37
NC_000001.9:g.22056462G>A	NCBI36
NG_016740.1:g.84876C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.5297C>T MANE Select	ENSP00000363827.3:p.Ala1766Val
ENST00000374695.7:c.5297C>T	ENSP00000363827.3:p.Ala1766Val
NM_001291860.1:c.5300C>T	NP_001278789.1:p.Ala1767Val
NM_005529.6:c.5297C>T	NP_005520.4:p.Ala1766Val
XM_006710594.2:c.5843C>T	XP_006710657.1:p.Ala1948Val
XM_006710595.2:c.5795C>T	XP_006710658.1:p.Ala1932Val
XM_006710596.2:c.5774C>T	XP_006710659.1:p.Ala1925Val
XM_006710597.2:c.5297C>T	XP_006710660.1:p.Ala1766Val
XM_011541317.1:c.5846C>T	XP_011539619.1:p.Ala1949Val
XM_011541318.1:c.5846C>T	XP_011539620.1:p.Ala1949Val
XM_011541319.1:c.5846C>T	XP_011539621.1:p.Ala1949Val
XM_011541320.1:c.5846C>T	XP_011539622.1:p.Ala1949Val
XM_011541321.1:c.5351C>T	XP_011539623.1:p.Ala1784Val
XM_011541322.1:c.5846C>T	XP_011539624.1:p.Ala1949Val
XM_011541318.2:c.5846C>T	XP_011539620.1:p.Ala1949Val
XM_017001120.1:c.5492C>T	XP_016856609.1:p.Ala1831Val
XM_017001121.1:c.5441C>T	XP_016856610.1:p.Ala1814Val
XM_017001122.1:c.5438C>T	XP_016856611.1:p.Ala1813Val
NM_005529.7:c.5297C>T MANE Select	NP_005520.4:p.Ala1766Val
NM_001291860.2:c.5300C>T	NP_001278789.1:p.Ala1767Val