Canonical Allele Identifier: CA669251

Gene: LDLRAD2 HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21824136C>T , CM000663.2:g.21824136C>T	GRCh38
NC_000001.10:g.22150629C>T , CM000663.1:g.22150629C>T	GRCh37
NC_000001.9:g.22023216C>T	NCBI36
NG_016740.1:g.118122G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001013693.3:c.*1921C>T (LDLRAD2) MANE Select	NP_001013715.2:n.*1921C>T
NM_005529.7:c.12884G>A (HSPG2) MANE Select	NP_005520.4:p.Arg4295Gln
ENST00000344642.7:c.*1921C>T (LDLRAD2) MANE Select	ENSP00000340988.2:n.*1921C>T
ENST00000374695.8:c.12884G>A (HSPG2) MANE Select	ENSP00000363827.3:p.Arg4295Gln
NM_001013693.2:c.*1921C>T (LDLRAD2)	NP_001013715.2:n.*1921C>T
NM_001291860.1:c.12887G>A (HSPG2)	NP_001278789.1:p.Arg4296Gln
NM_001291860.2:c.12887G>A (HSPG2)	NP_001278789.1:p.Arg4296Gln
NM_005529.6:c.12884G>A (HSPG2)	NP_005520.4:p.Arg4295Gln
ENST00000344642.6:c.*1921C>T (LDLRAD2)	ENSP00000340988.2:n.*1921C>T
ENST00000374695.7:c.12884G>A (HSPG2)	ENSP00000363827.3:p.Arg4295Gln
ENST00000481644.1:n.131G>A (HSPG2)
ENST00000486901.1:n.2223G>A (HSPG2)
XM_006710594.2:c.13448G>A (HSPG2)	XP_006710657.1:p.Arg4483Gln
XM_006710595.2:c.13400G>A (HSPG2)	XP_006710658.1:p.Arg4467Gln
XM_006710596.2:c.13379G>A (HSPG2)	XP_006710659.1:p.Arg4460Gln
XM_006710597.2:c.12902G>A (HSPG2)	XP_006710660.1:p.Arg4301Gln
XM_011541317.1:c.13451G>A (HSPG2)	XP_011539619.1:p.Arg4484Gln
XM_011541318.1:c.13433G>A (HSPG2)	XP_011539620.1:p.Arg4478Gln
XM_011541318.2:c.13433G>A (HSPG2)	XP_011539620.1:p.Arg4478Gln
XM_011541319.1:c.13328G>A (HSPG2)	XP_011539621.1:p.Arg4443Gln
XM_011541320.1:c.13172G>A (HSPG2)	XP_011539622.1:p.Arg4391Gln
XM_011541321.1:c.12956G>A (HSPG2)	XP_011539623.1:p.Arg4319Gln
XM_017001120.1:c.13079G>A (HSPG2)	XP_016856609.1:p.Arg4360Gln
XM_017001121.1:c.13028G>A (HSPG2)	XP_016856610.1:p.Arg4343Gln
XM_017001122.1:c.13025G>A (HSPG2)	XP_016856611.1:p.Arg4342Gln