Canonical Allele Identifier: CA669150

Gene: LDLRAD2 HSPG2

Linked Data

• ClinVar Variation Id: 499443
• ClinVar RCV Id: RCV000711913 ; RCV001095865 ; RCV001095866 ; RCV002279380 ; RCV002532468 ; RCV004543354
• dbSNP Id: rs145687082
• ExAC: 1:22149967 C / T
• gnomAD v2: 1-22149967-C-T
• gnomAD v3: 1-21823474-C-T
• gnomAD v4: 1-21823474-C-T
• MyVariant Identifiers: chr1:g.22149967C>T (hg19) ; chr1:g.21823474C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21823474C>T , CM000663.2:g.21823474C>T	GRCh38
NC_000001.10:g.22149967C>T , CM000663.1:g.22149967C>T	GRCh37
NC_000001.9:g.22022554C>T	NCBI36
NG_016740.1:g.118784G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344642.7:c.*1259C>T (LDLRAD2) MANE Select	ENSP00000340988.2:n.*1259C>T
ENST00000374695.8:c.13018G>A (HSPG2) MANE Select	ENSP00000363827.3:p.Val4340Met
ENST00000344642.6:c.*1259C>T (LDLRAD2)	ENSP00000340988.2:n.*1259C>T
ENST00000374695.7:c.13018G>A (HSPG2)	ENSP00000363827.3:p.Val4340Met
ENST00000481644.1:n.666G>A (HSPG2)
ENST00000486901.1:n.2357G>A (HSPG2)
ENST00000543870.1:c.*219-436C>T (LDLRAD2)	ENSP00000444097.1:n.*219-436C>T
NM_001013693.2:c.*1259C>T (LDLRAD2)	NP_001013715.2:n.*1259C>T
NM_001291860.1:c.13021G>A (HSPG2)	NP_001278789.1:p.Val4341Met
NM_005529.6:c.13018G>A (HSPG2)	NP_005520.4:p.Val4340Met
XM_006710594.2:c.13582G>A (HSPG2)	XP_006710657.1:p.Val4528Met
XM_006710595.2:c.13534G>A (HSPG2)	XP_006710658.1:p.Val4512Met
XM_006710596.2:c.13513G>A (HSPG2)	XP_006710659.1:p.Val4505Met
XM_006710597.2:c.13036G>A (HSPG2)	XP_006710660.1:p.Val4346Met
XM_011541317.1:c.13585G>A (HSPG2)	XP_011539619.1:p.Val4529Met
XM_011541318.1:c.13567G>A (HSPG2)	XP_011539620.1:p.Val4523Met
XM_011541319.1:c.13462G>A (HSPG2)	XP_011539621.1:p.Val4488Met
XM_011541320.1:c.13306G>A (HSPG2)	XP_011539622.1:p.Val4436Met
XM_011541321.1:c.13090G>A (HSPG2)	XP_011539623.1:p.Val4364Met
XM_011541318.2:c.13567G>A (HSPG2)	XP_011539620.1:p.Val4523Met
XM_017001120.1:c.13213G>A (HSPG2)	XP_016856609.1:p.Val4405Met
XM_017001121.1:c.13162G>A (HSPG2)	XP_016856610.1:p.Val4388Met
XM_017001122.1:c.13159G>A (HSPG2)	XP_016856611.1:p.Val4387Met
NM_005529.7:c.13018G>A (HSPG2) MANE Select	NP_005520.4:p.Val4340Met
NM_001013693.3:c.*1259C>T (LDLRAD2) MANE Select	NP_001013715.2:n.*1259C>T
NM_001291860.2:c.13021G>A (HSPG2)	NP_001278789.1:p.Val4341Met