Canonical Allele Identifier: CA669185

Gene: LDLRAD2 HSPG2

Linked Data

• ClinVar Variation Id: 295698
• ClinVar RCV Id: RCV000332719 ; RCV000371119 ; RCV003129823
• dbSNP Id: rs779443131
• ExAC: 1:22150112 T / C
• gnomAD v2: 1-22150112-T-C
• gnomAD v3: 1-21823619-T-C
• gnomAD v4: 1-21823619-T-C
• MyVariant Identifiers: chr1:g.22150112T>C (hg19) ; chr1:g.21823619T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21823619T>C , CM000663.2:g.21823619T>C	GRCh38
NC_000001.10:g.22150112T>C , CM000663.1:g.22150112T>C	GRCh37
NC_000001.9:g.22022699T>C	NCBI36
NG_016740.1:g.118639A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344642.7:c.*1404T>C (LDLRAD2) MANE Select	ENSP00000340988.2:n.*1404T>C
ENST00000374695.8:c.13000A>G (HSPG2) MANE Select	ENSP00000363827.3:p.Ile4334Val
ENST00000344642.6:c.*1404T>C (LDLRAD2)	ENSP00000340988.2:n.*1404T>C
ENST00000374695.7:c.13000A>G (HSPG2)	ENSP00000363827.3:p.Ile4334Val
ENST00000481644.1:n.648A>G (HSPG2)
ENST00000486901.1:n.2339A>G (HSPG2)
ENST00000543870.1:c.*219-291T>C (LDLRAD2)	ENSP00000444097.1:n.*219-291T>C
NM_001013693.2:c.*1404T>C (LDLRAD2)	NP_001013715.2:n.*1404T>C
NM_001291860.1:c.13003A>G (HSPG2)	NP_001278789.1:p.Ile4335Val
NM_005529.6:c.13000A>G (HSPG2)	NP_005520.4:p.Ile4334Val
XM_006710594.2:c.13564A>G (HSPG2)	XP_006710657.1:p.Ile4522Val
XM_006710595.2:c.13516A>G (HSPG2)	XP_006710658.1:p.Ile4506Val
XM_006710596.2:c.13495A>G (HSPG2)	XP_006710659.1:p.Ile4499Val
XM_006710597.2:c.13018A>G (HSPG2)	XP_006710660.1:p.Ile4340Val
XM_011541317.1:c.13567A>G (HSPG2)	XP_011539619.1:p.Ile4523Val
XM_011541318.1:c.13549A>G (HSPG2)	XP_011539620.1:p.Ile4517Val
XM_011541319.1:c.13444A>G (HSPG2)	XP_011539621.1:p.Ile4482Val
XM_011541320.1:c.13288A>G (HSPG2)	XP_011539622.1:p.Ile4430Val
XM_011541321.1:c.13072A>G (HSPG2)	XP_011539623.1:p.Ile4358Val
XM_011541318.2:c.13549A>G (HSPG2)	XP_011539620.1:p.Ile4517Val
XM_017001120.1:c.13195A>G (HSPG2)	XP_016856609.1:p.Ile4399Val
XM_017001121.1:c.13144A>G (HSPG2)	XP_016856610.1:p.Ile4382Val
XM_017001122.1:c.13141A>G (HSPG2)	XP_016856611.1:p.Ile4381Val
NM_005529.7:c.13000A>G (HSPG2) MANE Select	NP_005520.4:p.Ile4334Val
NM_001013693.3:c.*1404T>C (LDLRAD2) MANE Select	NP_001013715.2:n.*1404T>C
NM_001291860.2:c.13003A>G (HSPG2)	NP_001278789.1:p.Ile4335Val