Canonical Allele Identifier: CA669186

Gene: LDLRAD2 HSPG2

Linked Data

• ClinVar Variation Id: 295699
• ClinVar RCV Id: RCV000274764 ; RCV000318163 ; RCV001521940
• dbSNP Id: rs1138469
• ExAC: 1:22150118 C / T
• gnomAD v2: 1-22150118-C-T
• gnomAD v3: 1-21823625-C-T
• gnomAD v4: 1-21823625-C-T
• MyVariant Identifiers: chr1:g.22150118C>T (hg19) ; chr1:g.21823625C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21823625C>T , CM000663.2:g.21823625C>T	GRCh38
NC_000001.10:g.22150118C>T , CM000663.1:g.22150118C>T	GRCh37
NC_000001.9:g.22022705C>T	NCBI36
NG_016740.1:g.118633G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344642.7:c.*1410C>T (LDLRAD2) MANE Select	ENSP00000340988.2:n.*1410C>T
ENST00000374695.8:c.12994G>A (HSPG2) MANE Select	ENSP00000363827.3:p.Val4332Ile
ENST00000344642.6:c.*1410C>T (LDLRAD2)	ENSP00000340988.2:n.*1410C>T
ENST00000374695.7:c.12994G>A (HSPG2)	ENSP00000363827.3:p.Val4332Ile
ENST00000481644.1:n.642G>A (HSPG2)
ENST00000486901.1:n.2333G>A (HSPG2)
ENST00000543870.1:c.*219-285C>T (LDLRAD2)	ENSP00000444097.1:n.*219-285C>T
NM_001013693.2:c.*1410C>T (LDLRAD2)	NP_001013715.2:n.*1410C>T
NM_001291860.1:c.12997G>A (HSPG2)	NP_001278789.1:p.Val4333Ile
NM_005529.6:c.12994G>A (HSPG2)	NP_005520.4:p.Val4332Ile
XM_006710594.2:c.13558G>A (HSPG2)	XP_006710657.1:p.Val4520Ile
XM_006710595.2:c.13510G>A (HSPG2)	XP_006710658.1:p.Val4504Ile
XM_006710596.2:c.13489G>A (HSPG2)	XP_006710659.1:p.Val4497Ile
XM_006710597.2:c.13012G>A (HSPG2)	XP_006710660.1:p.Val4338Ile
XM_011541317.1:c.13561G>A (HSPG2)	XP_011539619.1:p.Val4521Ile
XM_011541318.1:c.13543G>A (HSPG2)	XP_011539620.1:p.Val4515Ile
XM_011541319.1:c.13438G>A (HSPG2)	XP_011539621.1:p.Val4480Ile
XM_011541320.1:c.13282G>A (HSPG2)	XP_011539622.1:p.Val4428Ile
XM_011541321.1:c.13066G>A (HSPG2)	XP_011539623.1:p.Val4356Ile
XM_011541318.2:c.13543G>A (HSPG2)	XP_011539620.1:p.Val4515Ile
XM_017001120.1:c.13189G>A (HSPG2)	XP_016856609.1:p.Val4397Ile
XM_017001121.1:c.13138G>A (HSPG2)	XP_016856610.1:p.Val4380Ile
XM_017001122.1:c.13135G>A (HSPG2)	XP_016856611.1:p.Val4379Ile
NM_005529.7:c.12994G>A (HSPG2) MANE Select	NP_005520.4:p.Val4332Ile
NM_001013693.3:c.*1410C>T (LDLRAD2) MANE Select	NP_001013715.2:n.*1410C>T
NM_001291860.2:c.12997G>A (HSPG2)	NP_001278789.1:p.Val4333Ile