Canonical Allele Identifier: CA2661815128
Gene: LRP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169154478del , CM000664.2:g.169154478del GRCh38
NC_000002.11:g.170010988del , CM000664.1:g.170010988del GRCh37
NC_000002.10:g.169719234del NCBI36
NG_012634.1:g.213137del

Transcript Alleles

HGVS Amino-acid change
ENST00000649046.1:c.12279del MANE Select ENSP00000496870.1:p.Lys4094ArgfsTer3
ENST00000649153.1:c.3179del
ENST00000650252.1:c.1307del ENSP00000496887.1:p.Pro436GlnfsTer18
ENST00000263816.7:c.12279del ENSP00000263816.3:p.Lys4094ArgfsTer3
NM_004525.2:c.12279del NP_004516.2:p.Lys4094ArgfsTer3
XM_011511183.1:c.12150del XP_011509485.1:p.Lys4051ArgfsTer3
XM_011511184.1:c.9990del XP_011509486.1:p.Lys3331ArgfsTer3
NM_004525.3:c.12279del MANE Select NP_004516.2:p.Lys4094ArgfsTer3
XM_011511183.3:c.12150del XP_011509485.1:p.Lys4051ArgfsTer3
XM_011511184.2:c.9990del XP_011509486.1:p.Lys3331ArgfsTer3