Canonical Allele Identifier: CA349137333
Gene: LRP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169154533G>C , CM000664.2:g.169154533G>C GRCh38
NC_000002.11:g.170011043G>C , CM000664.1:g.170011043G>C GRCh37
NC_000002.10:g.169719289G>C NCBI36
NG_012634.1:g.213080C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649046.1:c.12222C>G MANE Select ENSP00000496870.1:p.Phe4074Leu
ENST00000649153.1:c.3122C>G
ENST00000650252.1:c.1250C>G ENSP00000496887.1:p.Ser417Cys
ENST00000263816.7:c.12222C>G ENSP00000263816.3:p.Phe4074Leu
NM_004525.2:c.12222C>G NP_004516.2:p.Phe4074Leu
XM_011511183.1:c.12093C>G XP_011509485.1:p.Phe4031Leu
XM_011511184.1:c.9933C>G XP_011509486.1:p.Phe3311Leu
NM_004525.3:c.12222C>G MANE Select NP_004516.2:p.Phe4074Leu
XM_011511183.3:c.12093C>G XP_011509485.1:p.Phe4031Leu
XM_011511184.2:c.9933C>G XP_011509486.1:p.Phe3311Leu