Canonical Allele Identifier: CA429917407

Gene: LRP2

Linked Data

• gnomAD v4: 2-169129067-G-C
• MyVariant Identifiers: chr2:g.169985577G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169129067G>C , CM000664.2:g.169129067G>C	GRCh38
NC_000002.11:g.169985577G>C , CM000664.1:g.169985577G>C	GRCh37
NC_000002.10:g.169693823G>C	NCBI36
NG_012634.1:g.238546C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.13746C>G MANE Select	ENSP00000496870.1:p.Leu4582=
ENST00000649153.1:c.4555C>G
ENST00000650252.1:c.2737C>G	ENSP00000496887.1:n.2737C>G
ENST00000263816.7:c.13746C>G	ENSP00000263816.3:p.Leu4582=
NM_004525.2:c.13746C>G	NP_004516.2:p.Leu4582=
XM_011511183.1:c.13617C>G	XP_011509485.1:p.Leu4539=
XM_011511184.1:c.11457C>G	XP_011509486.1:p.Leu3819=
NM_004525.3:c.13746C>G MANE Select	NP_004516.2:p.Leu4582=
XM_011511183.3:c.13617C>G	XP_011509485.1:p.Leu4539=
XM_011511184.2:c.11457C>G	XP_011509486.1:p.Leu3819=