Canonical Allele Identifier: CA10611273
Gene: LRP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 332055
ClinVar RCV Id: RCV000300163
dbSNP Id: rs11411235
gnomAD v2: 2-169984262-AT-A
gnomAD v3: 2-169127752-AT-A
gnomAD v4: 2-169127752-AT-A
MyVariant Identifiers: chr2:g.169984263del (hg19) chr2:g.169127753del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169127764del , CM000664.2:g.169127764del GRCh38
NC_000002.11:g.169984274del , CM000664.1:g.169984274del GRCh37
NC_000002.10:g.169692520del NCBI36
NG_012634.1:g.239860del

Transcript Alleles

HGVS Amino-acid Change
ENST00000649046.1:c.*910del MANE Select ENSP00000496870.1:n.*910del
ENST00000263816.7:c.*910del ENSP00000263816.3:n.*910del
NM_004525.2:c.*910del NP_004516.2:n.*910del
XM_011511183.1:c.*910del XP_011509485.1:n.*910del
XM_011511184.1:c.*910del XP_011509486.1:n.*910del
NM_004525.3:c.*910del MANE Select NP_004516.2:n.*910del
XM_011511183.3:c.*910del XP_011509485.1:n.*910del
XM_011511184.2:c.*910del XP_011509486.1:n.*910del
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