Canonical Allele Identifier: CA669145

Gene: LDLRAD2 HSPG2

Linked Data

• ClinVar Variation Id: 447542
• ClinVar RCV Id: RCV000518544 ; RCV001095861 ; RCV001095862
• dbSNP Id: rs148788926
• ExAC: 1:22149952 C / T
• gnomAD v2: 1-22149952-C-T
• gnomAD v3: 1-21823459-C-T
• gnomAD v4: 1-21823459-C-T
• MyVariant Identifiers: chr1:g.22149952C>T (hg19) ; chr1:g.21823459C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21823459C>T , CM000663.2:g.21823459C>T	GRCh38
NC_000001.10:g.22149952C>T , CM000663.1:g.22149952C>T	GRCh37
NC_000001.9:g.22022539C>T	NCBI36
NG_016740.1:g.118799G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344642.7:c.*1244C>T (LDLRAD2) MANE Select	ENSP00000340988.2:n.*1244C>T
ENST00000374695.8:c.13033G>A (HSPG2) MANE Select	ENSP00000363827.3:p.Gly4345Arg
ENST00000344642.6:c.*1244C>T (LDLRAD2)	ENSP00000340988.2:n.*1244C>T
ENST00000374695.7:c.13033G>A (HSPG2)	ENSP00000363827.3:p.Gly4345Arg
ENST00000481644.1:n.681G>A (HSPG2)
ENST00000486901.1:n.2372G>A (HSPG2)
ENST00000543870.1:c.*219-451C>T (LDLRAD2)	ENSP00000444097.1:n.*219-451C>T
NM_001013693.2:c.*1244C>T (LDLRAD2)	NP_001013715.2:n.*1244C>T
NM_001291860.1:c.13036G>A (HSPG2)	NP_001278789.1:p.Gly4346Arg
NM_005529.6:c.13033G>A (HSPG2)	NP_005520.4:p.Gly4345Arg
XM_006710594.2:c.13597G>A (HSPG2)	XP_006710657.1:p.Gly4533Arg
XM_006710595.2:c.13549G>A (HSPG2)	XP_006710658.1:p.Gly4517Arg
XM_006710596.2:c.13528G>A (HSPG2)	XP_006710659.1:p.Gly4510Arg
XM_006710597.2:c.13051G>A (HSPG2)	XP_006710660.1:p.Gly4351Arg
XM_011541317.1:c.13600G>A (HSPG2)	XP_011539619.1:p.Gly4534Arg
XM_011541318.1:c.13582G>A (HSPG2)	XP_011539620.1:p.Gly4528Arg
XM_011541319.1:c.13477G>A (HSPG2)	XP_011539621.1:p.Gly4493Arg
XM_011541320.1:c.13321G>A (HSPG2)	XP_011539622.1:p.Gly4441Arg
XM_011541321.1:c.13105G>A (HSPG2)	XP_011539623.1:p.Gly4369Arg
XM_011541318.2:c.13582G>A (HSPG2)	XP_011539620.1:p.Gly4528Arg
XM_017001120.1:c.13228G>A (HSPG2)	XP_016856609.1:p.Gly4410Arg
XM_017001121.1:c.13177G>A (HSPG2)	XP_016856610.1:p.Gly4393Arg
XM_017001122.1:c.13174G>A (HSPG2)	XP_016856611.1:p.Gly4392Arg
NM_005529.7:c.13033G>A (HSPG2) MANE Select	NP_005520.4:p.Gly4345Arg
NM_001013693.3:c.*1244C>T (LDLRAD2) MANE Select	NP_001013715.2:n.*1244C>T
NM_001291860.2:c.13036G>A (HSPG2)	NP_001278789.1:p.Gly4346Arg