Canonical Allele Identifier: CA349137147
Gene: LRP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169154504A>G , CM000664.2:g.169154504A>G GRCh38
NC_000002.11:g.170011014A>G , CM000664.1:g.170011014A>G GRCh37
NC_000002.10:g.169719260A>G NCBI36
NG_012634.1:g.213109T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649046.1:c.12251T>C MANE Select ENSP00000496870.1:p.Ile4084Thr
ENST00000649153.1:c.3151T>C
ENST00000650252.1:c.1279T>C ENSP00000496887.1:p.Ser427Pro
ENST00000263816.7:c.12251T>C ENSP00000263816.3:p.Ile4084Thr
NM_004525.2:c.12251T>C NP_004516.2:p.Ile4084Thr
XM_011511183.1:c.12122T>C XP_011509485.1:p.Ile4041Thr
XM_011511184.1:c.9962T>C XP_011509486.1:p.Ile3321Thr
NM_004525.3:c.12251T>C MANE Select NP_004516.2:p.Ile4084Thr
XM_011511183.3:c.12122T>C XP_011509485.1:p.Ile4041Thr
XM_011511184.2:c.9962T>C XP_011509486.1:p.Ile3321Thr