Canonical Allele Identifier: CA338895823
Gene: LDLRAD2 HGNC NCBI
HSPG2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000344642.7:c.*1410C>A (LDLRAD2) MANE Select ENSP00000340988.2:n.*1410C>A
ENST00000374695.8:c.12994G>T (HSPG2) MANE Select ENSP00000363827.3:p.Val4332Phe
ENST00000344642.6:c.*1410C>A (LDLRAD2) ENSP00000340988.2:n.*1410C>A
ENST00000374695.7:c.12994G>T (HSPG2) ENSP00000363827.3:p.Val4332Phe
ENST00000481644.1:n.642G>T (HSPG2)
ENST00000486901.1:n.2333G>T (HSPG2)
ENST00000543870.1:c.*219-285C>A (LDLRAD2) ENSP00000444097.1:n.*219-285C>A
NM_001013693.2:c.*1410C>A (LDLRAD2) NP_001013715.2:n.*1410C>A
NM_001291860.1:c.12997G>T (HSPG2) NP_001278789.1:p.Val4333Phe
NM_005529.6:c.12994G>T (HSPG2) NP_005520.4:p.Val4332Phe
XM_006710594.2:c.13558G>T (HSPG2) XP_006710657.1:p.Val4520Phe
XM_006710595.2:c.13510G>T (HSPG2) XP_006710658.1:p.Val4504Phe
XM_006710596.2:c.13489G>T (HSPG2) XP_006710659.1:p.Val4497Phe
XM_006710597.2:c.13012G>T (HSPG2) XP_006710660.1:p.Val4338Phe
XM_011541317.1:c.13561G>T (HSPG2) XP_011539619.1:p.Val4521Phe
XM_011541318.1:c.13543G>T (HSPG2) XP_011539620.1:p.Val4515Phe
XM_011541319.1:c.13438G>T (HSPG2) XP_011539621.1:p.Val4480Phe
XM_011541320.1:c.13282G>T (HSPG2) XP_011539622.1:p.Val4428Phe
XM_011541321.1:c.13066G>T (HSPG2) XP_011539623.1:p.Val4356Phe
XM_011541318.2:c.13543G>T (HSPG2) XP_011539620.1:p.Val4515Phe
XM_017001120.1:c.13189G>T (HSPG2) XP_016856609.1:p.Val4397Phe
XM_017001121.1:c.13138G>T (HSPG2) XP_016856610.1:p.Val4380Phe
XM_017001122.1:c.13135G>T (HSPG2) XP_016856611.1:p.Val4379Phe
NM_005529.7:c.12994G>T (HSPG2) MANE Select NP_005520.4:p.Val4332Phe
NM_001013693.3:c.*1410C>A (LDLRAD2) MANE Select NP_001013715.2:n.*1410C>A
NM_001291860.2:c.12997G>T (HSPG2) NP_001278789.1:p.Val4333Phe