Canonical Allele Identifier: CA669201
Gene: LDLRAD2 HGNC NCBI
HSPG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21823667G>T , CM000663.2:g.21823667G>T GRCh38
NC_000001.10:g.22150160G>T , CM000663.1:g.22150160G>T GRCh37
NC_000001.9:g.22022747G>T NCBI36
NG_016740.1:g.118591C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000344642.7:c.*1452G>T (LDLRAD2) MANE Select ENSP00000340988.2:n.*1452G>T
ENST00000374695.8:c.12952C>A (HSPG2) MANE Select ENSP00000363827.3:p.Arg4318=
ENST00000344642.6:c.*1452G>T (LDLRAD2) ENSP00000340988.2:n.*1452G>T
ENST00000374695.7:c.12952C>A (HSPG2) ENSP00000363827.3:p.Arg4318=
ENST00000481644.1:n.600C>A (HSPG2)
ENST00000486901.1:n.2291C>A (HSPG2)
ENST00000543870.1:c.*219-243G>T (LDLRAD2) ENSP00000444097.1:n.*219-243G>T
NM_001013693.2:c.*1452G>T (LDLRAD2) NP_001013715.2:n.*1452G>T
NM_001291860.1:c.12955C>A (HSPG2) NP_001278789.1:p.Arg4319=
NM_005529.6:c.12952C>A (HSPG2) NP_005520.4:p.Arg4318=
XM_006710594.2:c.13516C>A (HSPG2) XP_006710657.1:p.Arg4506=
XM_006710595.2:c.13468C>A (HSPG2) XP_006710658.1:p.Arg4490=
XM_006710596.2:c.13447C>A (HSPG2) XP_006710659.1:p.Arg4483=
XM_006710597.2:c.12970C>A (HSPG2) XP_006710660.1:p.Arg4324=
XM_011541317.1:c.13519C>A (HSPG2) XP_011539619.1:p.Arg4507=
XM_011541318.1:c.13501C>A (HSPG2) XP_011539620.1:p.Arg4501=
XM_011541319.1:c.13396C>A (HSPG2) XP_011539621.1:p.Arg4466=
XM_011541320.1:c.13240C>A (HSPG2) XP_011539622.1:p.Arg4414=
XM_011541321.1:c.13024C>A (HSPG2) XP_011539623.1:p.Arg4342=
XM_011541318.2:c.13501C>A (HSPG2) XP_011539620.1:p.Arg4501=
XM_017001120.1:c.13147C>A (HSPG2) XP_016856609.1:p.Arg4383=
XM_017001121.1:c.13096C>A (HSPG2) XP_016856610.1:p.Arg4366=
XM_017001122.1:c.13093C>A (HSPG2) XP_016856611.1:p.Arg4365=
NM_005529.7:c.12952C>A (HSPG2) MANE Select NP_005520.4:p.Arg4318=
NM_001013693.3:c.*1452G>T (LDLRAD2) MANE Select NP_001013715.2:n.*1452G>T
NM_001291860.2:c.12955C>A (HSPG2) NP_001278789.1:p.Arg4319=