Canonical Allele Identifier: CA669129
Gene: LDLRAD2 HGNC NCBI
HSPG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21823396G>A , CM000663.2:g.21823396G>A GRCh38
NC_000001.10:g.22149889G>A , CM000663.1:g.22149889G>A GRCh37
NC_000001.9:g.22022476G>A NCBI36
NG_016740.1:g.118862C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000344642.7:c.*1181G>A (LDLRAD2) MANE Select ENSP00000340988.2:n.*1181G>A
ENST00000374695.8:c.13096C>T (HSPG2) MANE Select ENSP00000363827.3:p.Pro4366Ser
ENST00000344642.6:c.*1181G>A (LDLRAD2) ENSP00000340988.2:n.*1181G>A
ENST00000374695.7:c.13096C>T (HSPG2) ENSP00000363827.3:p.Pro4366Ser
ENST00000481644.1:n.744C>T (HSPG2)
ENST00000486901.1:n.2435C>T (HSPG2)
ENST00000543870.1:c.*219-514G>A (LDLRAD2) ENSP00000444097.1:n.*219-514G>A
NM_001013693.2:c.*1181G>A (LDLRAD2) NP_001013715.2:n.*1181G>A
NM_001291860.1:c.13099C>T (HSPG2) NP_001278789.1:p.Pro4367Ser
NM_005529.6:c.13096C>T (HSPG2) NP_005520.4:p.Pro4366Ser
XM_006710594.2:c.13660C>T (HSPG2) XP_006710657.1:p.Pro4554Ser
XM_006710595.2:c.13612C>T (HSPG2) XP_006710658.1:p.Pro4538Ser
XM_006710596.2:c.13591C>T (HSPG2) XP_006710659.1:p.Pro4531Ser
XM_006710597.2:c.13114C>T (HSPG2) XP_006710660.1:p.Pro4372Ser
XM_011541317.1:c.13663C>T (HSPG2) XP_011539619.1:p.Pro4555Ser
XM_011541318.1:c.13645C>T (HSPG2) XP_011539620.1:p.Pro4549Ser
XM_011541319.1:c.13540C>T (HSPG2) XP_011539621.1:p.Pro4514Ser
XM_011541320.1:c.13384C>T (HSPG2) XP_011539622.1:p.Pro4462Ser
XM_011541321.1:c.13168C>T (HSPG2) XP_011539623.1:p.Pro4390Ser
XM_011541318.2:c.13645C>T (HSPG2) XP_011539620.1:p.Pro4549Ser
XM_017001120.1:c.13291C>T (HSPG2) XP_016856609.1:p.Pro4431Ser
XM_017001121.1:c.13240C>T (HSPG2) XP_016856610.1:p.Pro4414Ser
XM_017001122.1:c.13237C>T (HSPG2) XP_016856611.1:p.Pro4413Ser
NM_005529.7:c.13096C>T (HSPG2) MANE Select NP_005520.4:p.Pro4366Ser
NM_001013693.3:c.*1181G>A (LDLRAD2) MANE Select NP_001013715.2:n.*1181G>A
NM_001291860.2:c.13099C>T (HSPG2) NP_001278789.1:p.Pro4367Ser