Canonical Allele Identifier: CA340912
Gene: LRP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 9453
ClinVar RCV Id: RCV000010061
dbSNP Id: rs80338749

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169198845_169198848del , CM000664.2:g.169198845_169198848del GRCh38
NC_000002.11:g.170055355_170055358del , CM000664.1:g.170055355_170055358del GRCh37
NC_000002.10:g.169763601_169763604del NCBI36
NG_012634.1:g.168768_168771del

Transcript Alleles

HGVS Amino-acid Change
ENST00000649046.1:c.8519_8522del MANE Select ENSP00000496870.1:p.Tyr2840CysfsTer?
ENST00000263816.7:c.8519_8522del ENSP00000263816.3:p.Tyr2840CysfsTer?
NM_004525.2:c.8519_8522del NP_004516.2:p.Tyr2840CysfsTer?
XM_011511183.1:c.8519_8522del XP_011509485.1:p.Tyr2840CysfsTer?
XM_011511184.1:c.6230_6233del XP_011509486.1:p.Tyr2077CysfsTer?
XM_011511185.1:c.8519_8522del XP_011509487.1:p.Tyr2840CysfsTer?
NM_004525.3:c.8519_8522del MANE Select NP_004516.2:p.Tyr2840CysfsTer?
XM_011511183.3:c.8519_8522del XP_011509485.1:p.Tyr2840CysfsTer?
XM_011511184.2:c.6230_6233del XP_011509486.1:p.Tyr2077CysfsTer?