Canonical Allele Identifier: CA669191

Gene: LDLRAD2 HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21823637C>T , CM000663.2:g.21823637C>T	GRCh38
NC_000001.10:g.22150130C>T , CM000663.1:g.22150130C>T	GRCh37
NC_000001.9:g.22022717C>T	NCBI36
NG_016740.1:g.118621G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344642.7:c.*1422C>T (LDLRAD2) MANE Select	ENSP00000340988.2:n.*1422C>T
ENST00000374695.8:c.12982G>A (HSPG2) MANE Select	ENSP00000363827.3:p.Ala4328Thr
ENST00000344642.6:c.*1422C>T (LDLRAD2)	ENSP00000340988.2:n.*1422C>T
ENST00000374695.7:c.12982G>A (HSPG2)	ENSP00000363827.3:p.Ala4328Thr
ENST00000481644.1:n.630G>A (HSPG2)
ENST00000486901.1:n.2321G>A (HSPG2)
ENST00000543870.1:c.*219-273C>T (LDLRAD2)	ENSP00000444097.1:n.*219-273C>T
NM_001013693.2:c.*1422C>T (LDLRAD2)	NP_001013715.2:n.*1422C>T
NM_001291860.1:c.12985G>A (HSPG2)	NP_001278789.1:p.Ala4329Thr
NM_005529.6:c.12982G>A (HSPG2)	NP_005520.4:p.Ala4328Thr
XM_006710594.2:c.13546G>A (HSPG2)	XP_006710657.1:p.Ala4516Thr
XM_006710595.2:c.13498G>A (HSPG2)	XP_006710658.1:p.Ala4500Thr
XM_006710596.2:c.13477G>A (HSPG2)	XP_006710659.1:p.Ala4493Thr
XM_006710597.2:c.13000G>A (HSPG2)	XP_006710660.1:p.Ala4334Thr
XM_011541317.1:c.13549G>A (HSPG2)	XP_011539619.1:p.Ala4517Thr
XM_011541318.1:c.13531G>A (HSPG2)	XP_011539620.1:p.Ala4511Thr
XM_011541319.1:c.13426G>A (HSPG2)	XP_011539621.1:p.Ala4476Thr
XM_011541320.1:c.13270G>A (HSPG2)	XP_011539622.1:p.Ala4424Thr
XM_011541321.1:c.13054G>A (HSPG2)	XP_011539623.1:p.Ala4352Thr
XM_011541318.2:c.13531G>A (HSPG2)	XP_011539620.1:p.Ala4511Thr
XM_017001120.1:c.13177G>A (HSPG2)	XP_016856609.1:p.Ala4393Thr
XM_017001121.1:c.13126G>A (HSPG2)	XP_016856610.1:p.Ala4376Thr
XM_017001122.1:c.13123G>A (HSPG2)	XP_016856611.1:p.Ala4375Thr
NM_005529.7:c.12982G>A (HSPG2) MANE Select	NP_005520.4:p.Ala4328Thr
NM_001013693.3:c.*1422C>T (LDLRAD2) MANE Select	NP_001013715.2:n.*1422C>T
NM_001291860.2:c.12985G>A (HSPG2)	NP_001278789.1:p.Ala4329Thr