Canonical Allele Identifier: CA672546

Gene: HSPG2

Linked Data

• ClinVar Variation Id: 447549
• ClinVar RCV Id: RCV000710146 ; RCV001096080 ; RCV002279305 ; RCV004537844 ; RCV001096081
• dbSNP Id: rs113652076
• ExAC: 1:22200454 G / T
• gnomAD v2: 1-22200454-G-T
• gnomAD v3: 1-21873961-G-T
• gnomAD v4: 1-21873961-G-T
• MyVariant Identifiers: chr1:g.22200454G>T (hg19) ; chr1:g.21873961G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21873961G>T , CM000663.2:g.21873961G>T	GRCh38
NC_000001.10:g.22200454G>T , CM000663.1:g.22200454G>T	GRCh37
NC_000001.9:g.22073041G>T	NCBI36
NG_016740.1:g.68297C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374695.8:c.3707C>A MANE Select	ENSP00000363827.3:p.Ala1236Glu
ENST00000374695.7:c.3707C>A	ENSP00000363827.3:p.Ala1236Glu
ENST00000427897.1:c.270C>A
NM_001291860.1:c.3710C>A	NP_001278789.1:p.Ala1237Glu
NM_005529.6:c.3707C>A	NP_005520.4:p.Ala1236Glu
XM_006710594.2:c.3758C>A	XP_006710657.1:p.Ala1253Glu
XM_006710595.2:c.3710C>A	XP_006710658.1:p.Ala1237Glu
XM_006710596.2:c.3761C>A	XP_006710659.1:p.Ala1254Glu
XM_006710597.2:c.3707C>A	XP_006710660.1:p.Ala1236Glu
XM_011541317.1:c.3761C>A	XP_011539619.1:p.Ala1254Glu
XM_011541318.1:c.3761C>A	XP_011539620.1:p.Ala1254Glu
XM_011541319.1:c.3761C>A	XP_011539621.1:p.Ala1254Glu
XM_011541320.1:c.3761C>A	XP_011539622.1:p.Ala1254Glu
XM_011541321.1:c.3761C>A	XP_011539623.1:p.Ala1254Glu
XM_011541322.1:c.3761C>A	XP_011539624.1:p.Ala1254Glu
XM_011541318.2:c.3761C>A	XP_011539620.1:p.Ala1254Glu
XM_017001120.1:c.3902C>A	XP_016856609.1:p.Ala1301Glu
XM_017001121.1:c.3851C>A	XP_016856610.1:p.Ala1284Glu
XM_017001122.1:c.3848C>A	XP_016856611.1:p.Ala1283Glu
NM_005529.7:c.3707C>A MANE Select	NP_005520.4:p.Ala1236Glu
NM_001291860.2:c.3710C>A	NP_001278789.1:p.Ala1237Glu