Canonical Allele Identifier: CA349149460
Gene: LRP2 HGNC NCBI

Linked Data

COSMIC: COSM257316

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169129069G>T , CM000664.2:g.169129069G>T GRCh38
NC_000002.11:g.169985579G>T , CM000664.1:g.169985579G>T GRCh37
NC_000002.10:g.169693825G>T NCBI36
NG_012634.1:g.238544C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649046.1:c.13744C>A MANE Select ENSP00000496870.1:p.Leu4582Ile
ENST00000649153.1:c.4553C>A
ENST00000650252.1:c.2735C>A ENSP00000496887.1:n.2735C>A
ENST00000263816.7:c.13744C>A ENSP00000263816.3:p.Leu4582Ile
NM_004525.2:c.13744C>A NP_004516.2:p.Leu4582Ile
XM_011511183.1:c.13615C>A XP_011509485.1:p.Leu4539Ile
XM_011511184.1:c.11455C>A XP_011509486.1:p.Leu3819Ile
NM_004525.3:c.13744C>A MANE Select NP_004516.2:p.Leu4582Ile
XM_011511183.3:c.13615C>A XP_011509485.1:p.Leu4539Ile
XM_011511184.2:c.11455C>A XP_011509486.1:p.Leu3819Ile