Canonical Allele Identifier: CA349136993
Gene: LRP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169154475T>G , CM000664.2:g.169154475T>G GRCh38
NC_000002.11:g.170010985T>G , CM000664.1:g.170010985T>G GRCh37
NC_000002.10:g.169719231T>G NCBI36
NG_012634.1:g.213138A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649046.1:c.12280A>C MANE Select ENSP00000496870.1:p.Lys4094Gln
ENST00000649153.1:c.3180A>C
ENST00000650252.1:c.1308A>C ENSP00000496887.1:p.Pro436=
ENST00000263816.7:c.12280A>C ENSP00000263816.3:p.Lys4094Gln
NM_004525.2:c.12280A>C NP_004516.2:p.Lys4094Gln
XM_011511183.1:c.12151A>C XP_011509485.1:p.Lys4051Gln
XM_011511184.1:c.9991A>C XP_011509486.1:p.Lys3331Gln
NM_004525.3:c.12280A>C MANE Select NP_004516.2:p.Lys4094Gln
XM_011511183.3:c.12151A>C XP_011509485.1:p.Lys4051Gln
XM_011511184.2:c.9991A>C XP_011509486.1:p.Lys3331Gln