Canonical Allele Identifier: CA349151989
Gene: LRP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169182254C>A , CM000664.2:g.169182254C>A GRCh38
NC_000002.11:g.170038764C>A , CM000664.1:g.170038764C>A GRCh37
NC_000002.10:g.169747010C>A NCBI36
NG_012634.1:g.185359G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649046.1:c.9911G>T MANE Select ENSP00000496870.1:p.Arg3304Leu
ENST00000649153.1:c.811G>T
ENST00000263816.7:c.9911G>T ENSP00000263816.3:p.Arg3304Leu
ENST00000461418.1:n.112G>T
NM_004525.2:c.9911G>T NP_004516.2:p.Arg3304Leu
XM_011511183.1:c.9911G>T XP_011509485.1:p.Arg3304Leu
XM_011511184.1:c.7622G>T XP_011509486.1:p.Arg2541Leu
NM_004525.3:c.9911G>T MANE Select NP_004516.2:p.Arg3304Leu
XM_011511183.3:c.9911G>T XP_011509485.1:p.Arg3304Leu
XM_011511184.2:c.7622G>T XP_011509486.1:p.Arg2541Leu