Canonical Allele Identifier: CA669132
Gene: LDLRAD2 HGNC NCBI
HSPG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21823404G>A , CM000663.2:g.21823404G>A GRCh38
NC_000001.10:g.22149897G>A , CM000663.1:g.22149897G>A GRCh37
NC_000001.9:g.22022484G>A NCBI36
NG_016740.1:g.118854C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000344642.7:c.*1189G>A (LDLRAD2) MANE Select ENSP00000340988.2:n.*1189G>A
ENST00000374695.8:c.13088C>T (HSPG2) MANE Select ENSP00000363827.3:p.Ser4363Leu
ENST00000344642.6:c.*1189G>A (LDLRAD2) ENSP00000340988.2:n.*1189G>A
ENST00000374695.7:c.13088C>T (HSPG2) ENSP00000363827.3:p.Ser4363Leu
ENST00000481644.1:n.736C>T (HSPG2)
ENST00000486901.1:n.2427C>T (HSPG2)
ENST00000543870.1:c.*219-506G>A (LDLRAD2) ENSP00000444097.1:n.*219-506G>A
NM_001013693.2:c.*1189G>A (LDLRAD2) NP_001013715.2:n.*1189G>A
NM_001291860.1:c.13091C>T (HSPG2) NP_001278789.1:p.Ser4364Leu
NM_005529.6:c.13088C>T (HSPG2) NP_005520.4:p.Ser4363Leu
XM_006710594.2:c.13652C>T (HSPG2) XP_006710657.1:p.Ser4551Leu
XM_006710595.2:c.13604C>T (HSPG2) XP_006710658.1:p.Ser4535Leu
XM_006710596.2:c.13583C>T (HSPG2) XP_006710659.1:p.Ser4528Leu
XM_006710597.2:c.13106C>T (HSPG2) XP_006710660.1:p.Ser4369Leu
XM_011541317.1:c.13655C>T (HSPG2) XP_011539619.1:p.Ser4552Leu
XM_011541318.1:c.13637C>T (HSPG2) XP_011539620.1:p.Ser4546Leu
XM_011541319.1:c.13532C>T (HSPG2) XP_011539621.1:p.Ser4511Leu
XM_011541320.1:c.13376C>T (HSPG2) XP_011539622.1:p.Ser4459Leu
XM_011541321.1:c.13160C>T (HSPG2) XP_011539623.1:p.Ser4387Leu
XM_011541318.2:c.13637C>T (HSPG2) XP_011539620.1:p.Ser4546Leu
XM_017001120.1:c.13283C>T (HSPG2) XP_016856609.1:p.Ser4428Leu
XM_017001121.1:c.13232C>T (HSPG2) XP_016856610.1:p.Ser4411Leu
XM_017001122.1:c.13229C>T (HSPG2) XP_016856611.1:p.Ser4410Leu
NM_005529.7:c.13088C>T (HSPG2) MANE Select NP_005520.4:p.Ser4363Leu
NM_001013693.3:c.*1189G>A (LDLRAD2) MANE Select NP_001013715.2:n.*1189G>A
NM_001291860.2:c.13091C>T (HSPG2) NP_001278789.1:p.Ser4364Leu