Canonical Allele Identifier: CA349137454
Gene: LRP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169154564A>G , CM000664.2:g.169154564A>G GRCh38
NC_000002.11:g.170011074A>G , CM000664.1:g.170011074A>G GRCh37
NC_000002.10:g.169719320A>G NCBI36
NG_012634.1:g.213049T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649046.1:c.12191T>C MANE Select ENSP00000496870.1:p.Ile4064Thr
ENST00000649153.1:c.3091T>C
ENST00000650252.1:c.1219T>C ENSP00000496887.1:p.Phe407Leu
ENST00000263816.7:c.12191T>C ENSP00000263816.3:p.Ile4064Thr
NM_004525.2:c.12191T>C NP_004516.2:p.Ile4064Thr
XM_011511183.1:c.12062T>C XP_011509485.1:p.Ile4021Thr
XM_011511184.1:c.9902T>C XP_011509486.1:p.Ile3301Thr
NM_004525.3:c.12191T>C MANE Select NP_004516.2:p.Ile4064Thr
XM_011511183.3:c.12062T>C XP_011509485.1:p.Ile4021Thr
XM_011511184.2:c.9902T>C XP_011509486.1:p.Ile3301Thr