Canonical Allele Identifier: CA10611709
Gene: LRP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 332045
ClinVar RCV Id: RCV000379218
dbSNP Id: rs886055071
gnomAD v3: 2-169127532-C-CA
gnomAD v4: 2-169127532-C-CA
MyVariant Identifiers: chr2:g.169984042_169984043insA (hg19) chr2:g.169127532_169127533insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169127532_169127533insA , CM000664.2:g.169127532_169127533insA GRCh38
NC_000002.11:g.169984042_169984043insA , CM000664.1:g.169984042_169984043insA GRCh37
NC_000002.10:g.169692288_169692289insA NCBI36
NG_012634.1:g.240080_240081insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000649046.1:c.*1130_*1131insT MANE Select ENSP00000496870.1:n.*1130_*1131insT
ENST00000263816.7:c.*1130_*1131insT ENSP00000263816.3:n.*1130_*1131insT
NM_004525.2:c.*1130_*1131insT NP_004516.2:n.*1130_*1131insT
XM_011511183.1:c.*1130_*1131insT XP_011509485.1:n.*1130_*1131insT
XM_011511184.1:c.*1130_*1131insT XP_011509486.1:n.*1130_*1131insT
NM_004525.3:c.*1130_*1131insT MANE Select NP_004516.2:n.*1130_*1131insT
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