Canonical Allele Identifier: CA429922599

Gene: LRP2

Linked Data

• ClinVar Variation Id: 2765154
• ClinVar RCV Id: RCV003578212
• gnomAD v4: 2-169154562-G-T
• MyVariant Identifiers: chr2:g.170011072G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154562G>T , CM000664.2:g.169154562G>T	GRCh38
NC_000002.11:g.170011072G>T , CM000664.1:g.170011072G>T	GRCh37
NC_000002.10:g.169719318G>T	NCBI36
NG_012634.1:g.213051C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.12193C>A MANE Select	ENSP00000496870.1:p.Arg4065=
ENST00000649153.1:c.3093C>A
ENST00000650252.1:c.1221C>A	ENSP00000496887.1:p.Phe407Leu
ENST00000263816.7:c.12193C>A	ENSP00000263816.3:p.Arg4065=
NM_004525.2:c.12193C>A	NP_004516.2:p.Arg4065=
XM_011511183.1:c.12064C>A	XP_011509485.1:p.Arg4022=
XM_011511184.1:c.9904C>A	XP_011509486.1:p.Arg3302=
NM_004525.3:c.12193C>A MANE Select	NP_004516.2:p.Arg4065=
XM_011511183.3:c.12064C>A	XP_011509485.1:p.Arg4022=
XM_011511184.2:c.9904C>A	XP_011509486.1:p.Arg3302=