Canonical Allele Identifier: CA2573133591
Gene: LRP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1653195
ClinVar RCV Id: RCV002160938

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169154475_169154476delinsCA , CM000664.2:g.169154475_169154476delinsCA GRCh38
NC_000002.11:g.170010985_170010986delinsCA , CM000664.1:g.170010985_170010986delinsCA GRCh37
NC_000002.10:g.169719231_169719232delinsCA NCBI36
NG_012634.1:g.213137_213138delinsTG

Transcript Alleles

HGVS Amino-acid change
ENST00000649046.1:c.12279_12280delinsTG MANE Select ENSP00000496870.1:p.Lys4094Glu
ENST00000649153.1:c.3179_3180delinsTG
ENST00000650252.1:c.1307_1308delinsTG ENSP00000496887.1:p.Pro436Leu
ENST00000263816.7:c.12279_12280delinsTG ENSP00000263816.3:p.Lys4094Glu
NM_004525.2:c.12279_12280delinsTG NP_004516.2:p.Lys4094Glu
XM_011511183.1:c.12150_12151delinsTG XP_011509485.1:p.Lys4051Glu
XM_011511184.1:c.9990_9991delinsTG XP_011509486.1:p.Lys3331Glu
NM_004525.3:c.12279_12280delinsTG MANE Select NP_004516.2:p.Lys4094Glu
XM_011511183.3:c.12150_12151delinsTG XP_011509485.1:p.Lys4051Glu
XM_011511184.2:c.9990_9991delinsTG XP_011509486.1:p.Lys3331Glu