Canonical Allele Identifier: CA2573134045

Gene: LRP2

Linked Data

• ClinVar Variation Id: 1571250
• ClinVar RCV Id: RCV002217566
• dbSNP Id: rs1690424817

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169259012T>G , CM000664.2:g.169259012T>G	GRCh38
NC_000002.11:g.170115522T>G , CM000664.1:g.170115522T>G	GRCh37
NC_000002.10:g.169823768T>G	NCBI36
NG_012634.1:g.108601A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.2513+13A>C MANE Select	ENSP00000496870.1:n.2513+13A>C
ENST00000263816.7:c.2513+13A>C	ENSP00000263816.3:n.2513+13A>C
ENST00000443831.1:c.2102+13A>C	ENSP00000409813.1:n.2102+13A>C
NM_004525.2:c.2513+13A>C	NP_004516.2:n.2513+13A>C
XM_011511183.1:c.2513+13A>C	XP_011509485.1:n.2513+13A>C
XM_011511184.1:c.224+13A>C	XP_011509486.1:n.224+13A>C
XM_011511185.1:c.2513+13A>C	XP_011509487.1:n.2513+13A>C
NM_004525.3:c.2513+13A>C MANE Select	NP_004516.2:n.2513+13A>C
XM_011511183.3:c.2513+13A>C	XP_011509485.1:n.2513+13A>C
XM_011511184.2:c.224+13A>C	XP_011509486.1:n.224+13A>C