Canonical Allele Identifier: CA1953433
Gene: LRP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169181574C>T , CM000664.2:g.169181574C>T GRCh38
NC_000002.11:g.170038084C>T , CM000664.1:g.170038084C>T GRCh37
NC_000002.10:g.169746330C>T NCBI36
NG_012634.1:g.186039G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649046.1:c.10043G>A MANE Select ENSP00000496870.1:p.Arg3348Lys
ENST00000649153.1:c.943G>A
ENST00000263816.7:c.10043G>A ENSP00000263816.3:p.Arg3348Lys
ENST00000461418.1:n.244G>A
NM_004525.2:c.10043G>A NP_004516.2:p.Arg3348Lys
XM_011511183.1:c.10043G>A XP_011509485.1:p.Arg3348Lys
XM_011511184.1:c.7754G>A XP_011509486.1:p.Arg2585Lys
NM_004525.3:c.10043G>A MANE Select NP_004516.2:p.Arg3348Lys
XM_011511183.3:c.10043G>A XP_011509485.1:p.Arg3348Lys
XM_011511184.2:c.7754G>A XP_011509486.1:p.Arg2585Lys