Canonical Allele Identifier: CA669217

Gene: LDLRAD2 HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21823721T>C , CM000663.2:g.21823721T>C	GRCh38
NC_000001.10:g.22150214T>C , CM000663.1:g.22150214T>C	GRCh37
NC_000001.9:g.22022801T>C	NCBI36
NG_016740.1:g.118537A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001013693.3:c.*1506T>C (LDLRAD2) MANE Select	NP_001013715.2:n.*1506T>C
NM_005529.7:c.12900-2A>G (HSPG2) MANE Select	NP_005520.4:n.12900-2A>G
ENST00000344642.7:c.*1506T>C (LDLRAD2) MANE Select	ENSP00000340988.2:n.*1506T>C
ENST00000374695.8:c.12900-2A>G (HSPG2) MANE Select	ENSP00000363827.3:n.12900-2A>G
NM_001013693.2:c.*1506T>C (LDLRAD2)	NP_001013715.2:n.*1506T>C
NM_001291860.1:c.12903-2A>G (HSPG2)	NP_001278789.1:n.12903-2A>G
NM_001291860.2:c.12903-2A>G (HSPG2)	NP_001278789.1:n.12903-2A>G
NM_005529.6:c.12900-2A>G (HSPG2)	NP_005520.4:n.12900-2A>G
ENST00000344642.6:c.*1506T>C (LDLRAD2)	ENSP00000340988.2:n.*1506T>C
ENST00000374695.7:c.12900-2A>G (HSPG2)	ENSP00000363827.3:n.12900-2A>G
ENST00000481644.1:n.546A>G (HSPG2)
ENST00000486901.1:n.2239-2A>G (HSPG2)
ENST00000543870.1:c.*219-189T>C (LDLRAD2)	ENSP00000444097.1:n.*219-189T>C
XM_006710594.2:c.13464-2A>G (HSPG2)	XP_006710657.1:n.13464-2A>G
XM_006710595.2:c.13416-2A>G (HSPG2)	XP_006710658.1:n.13416-2A>G
XM_006710596.2:c.13395-2A>G (HSPG2)	XP_006710659.1:n.13395-2A>G
XM_006710597.2:c.12918-2A>G (HSPG2)	XP_006710660.1:n.12918-2A>G
XM_011541317.1:c.13467-2A>G (HSPG2)	XP_011539619.1:n.13467-2A>G
XM_011541318.1:c.13449-2A>G (HSPG2)	XP_011539620.1:n.13449-2A>G
XM_011541318.2:c.13449-2A>G (HSPG2)	XP_011539620.1:n.13449-2A>G
XM_011541319.1:c.13344-2A>G (HSPG2)	XP_011539621.1:n.13344-2A>G
XM_011541320.1:c.13188-2A>G (HSPG2)	XP_011539622.1:n.13188-2A>G
XM_011541321.1:c.12972-2A>G (HSPG2)	XP_011539623.1:n.12972-2A>G
XM_017001120.1:c.13095-2A>G (HSPG2)	XP_016856609.1:n.13095-2A>G
XM_017001121.1:c.13044-2A>G (HSPG2)	XP_016856610.1:n.13044-2A>G
XM_017001122.1:c.13041-2A>G (HSPG2)	XP_016856611.1:n.13041-2A>G