Canonical Allele Identifier: CA669146
Community Standard Title: NM_001013693.3(LDLRAD2):c.*1245G>A
Gene: LDLRAD2 HGNC NCBI
HSPG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21823460G>A , CM000663.2:g.21823460G>A GRCh38
NC_000001.10:g.22149953G>A , CM000663.1:g.22149953G>A GRCh37
NC_000001.9:g.22022540G>A NCBI36
NG_016740.1:g.118798C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001013693.3:c.*1245G>A (LDLRAD2) MANE Select NP_001013715.2:n.*1245G>A
NM_005529.7:c.13032C>T (HSPG2) MANE Select NP_005520.4:p.Thr4344=
ENST00000344642.7:c.*1245G>A (LDLRAD2) MANE Select ENSP00000340988.2:n.*1245G>A
ENST00000374695.8:c.13032C>T (HSPG2) MANE Select ENSP00000363827.3:p.Thr4344=
NM_001013693.2:c.*1245G>A (LDLRAD2) NP_001013715.2:n.*1245G>A
NM_001291860.1:c.13035C>T (HSPG2) NP_001278789.1:p.Thr4345=
NM_001291860.2:c.13035C>T (HSPG2) NP_001278789.1:p.Thr4345=
NM_005529.6:c.13032C>T (HSPG2) NP_005520.4:p.Thr4344=
ENST00000344642.6:c.*1245G>A (LDLRAD2) ENSP00000340988.2:n.*1245G>A
ENST00000374695.7:c.13032C>T (HSPG2) ENSP00000363827.3:p.Thr4344=
ENST00000481644.1:n.680C>T (HSPG2)
ENST00000486901.1:n.2371C>T (HSPG2)
ENST00000543870.1:c.*219-450G>A (LDLRAD2) ENSP00000444097.1:n.*219-450G>A
XM_006710594.2:c.13596C>T (HSPG2) XP_006710657.1:p.Thr4532=
XM_006710595.2:c.13548C>T (HSPG2) XP_006710658.1:p.Thr4516=
XM_006710596.2:c.13527C>T (HSPG2) XP_006710659.1:p.Thr4509=
XM_006710597.2:c.13050C>T (HSPG2) XP_006710660.1:p.Thr4350=
XM_011541317.1:c.13599C>T (HSPG2) XP_011539619.1:p.Thr4533=
XM_011541318.1:c.13581C>T (HSPG2) XP_011539620.1:p.Thr4527=
XM_011541318.2:c.13581C>T (HSPG2) XP_011539620.1:p.Thr4527=
XM_011541319.1:c.13476C>T (HSPG2) XP_011539621.1:p.Thr4492=
XM_011541320.1:c.13320C>T (HSPG2) XP_011539622.1:p.Thr4440=
XM_011541321.1:c.13104C>T (HSPG2) XP_011539623.1:p.Thr4368=
XM_017001120.1:c.13227C>T (HSPG2) XP_016856609.1:p.Thr4409=
XM_017001121.1:c.13176C>T (HSPG2) XP_016856610.1:p.Thr4392=
XM_017001122.1:c.13173C>T (HSPG2) XP_016856611.1:p.Thr4391=