Canonical Allele Identifier: CA10609883

Gene: LDLRAD2 HSPG2

Linked Data

• ClinVar Variation Id: 295688
• ClinVar RCV Id: RCV000327467 ; RCV000384311
• dbSNP Id: rs575020789
• gnomAD v2: 1-22149216-G-A
• gnomAD v3: 1-21822723-G-A
• gnomAD v4: 1-21822723-G-A
• MyVariant Identifiers: chr1:g.22149216G>A (hg19) ; chr1:g.21822723G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21822723G>A , CM000663.2:g.21822723G>A	GRCh38
NC_000001.10:g.22149216G>A , CM000663.1:g.22149216G>A	GRCh37
NC_000001.9:g.22021803G>A	NCBI36
NG_016740.1:g.119535C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344642.7:c.*508G>A (LDLRAD2) MANE Select	ENSP00000340988.2:n.*508G>A
ENST00000374695.8:c.*593C>T (HSPG2) MANE Select	ENSP00000363827.3:n.*593C>T
ENST00000344642.6:c.*508G>A (LDLRAD2)	ENSP00000340988.2:n.*508G>A
ENST00000374695.7:c.*593C>T (HSPG2)	ENSP00000363827.3:n.*593C>T
ENST00000486901.1:n.3108C>T (HSPG2)
ENST00000543870.1:c.*218+290G>A (LDLRAD2)	ENSP00000444097.1:n.*218+290G>A
NM_001013693.2:c.*508G>A (LDLRAD2)	NP_001013715.2:n.*508G>A
NM_001291860.1:c.*593C>T (HSPG2)	NP_001278789.1:n.*593C>T
NM_005529.6:c.*593C>T (HSPG2)	NP_005520.4:n.*593C>T
XM_005245873.3:c.*1056G>A (LDLRAD2)	XP_005245930.1:n.*1056G>A
XM_006710594.2:c.*593C>T (HSPG2)	XP_006710657.1:n.*593C>T
XM_006710595.2:c.*593C>T (HSPG2)	XP_006710658.1:n.*593C>T
XM_006710596.2:c.*593C>T (HSPG2)	XP_006710659.1:n.*593C>T
XM_006710597.2:c.*593C>T (HSPG2)	XP_006710660.1:n.*593C>T
XM_011541317.1:c.*593C>T (HSPG2)	XP_011539619.1:n.*593C>T
XM_011541318.1:c.*593C>T (HSPG2)	XP_011539620.1:n.*593C>T
XM_011541319.1:c.*593C>T (HSPG2)	XP_011539621.1:n.*593C>T
XM_011541320.1:c.*593C>T (HSPG2)	XP_011539622.1:n.*593C>T
XM_011541321.1:c.*593C>T (HSPG2)	XP_011539623.1:n.*593C>T
XM_011541318.2:c.*593C>T (HSPG2)	XP_011539620.1:n.*593C>T
XM_017001120.1:c.*593C>T (HSPG2)	XP_016856609.1:n.*593C>T
XM_017001121.1:c.*593C>T (HSPG2)	XP_016856610.1:n.*593C>T
XM_017001122.1:c.*593C>T (HSPG2)	XP_016856611.1:n.*593C>T
NM_005529.7:c.*593C>T (HSPG2) MANE Select	NP_005520.4:n.*593C>T
NM_001013693.3:c.*508G>A (LDLRAD2) MANE Select	NP_001013715.2:n.*508G>A
NM_001291860.2:c.*593C>T (HSPG2)	NP_001278789.1:n.*593C>T