Canonical Allele Identifier: CA10612851
Gene: LRP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 332060
ClinVar RCV Id: RCV000268258
dbSNP Id: rs114836292
gnomAD v2: 2-169984729-C-T
gnomAD v3: 2-169128219-C-T
gnomAD v4: 2-169128219-C-T
MyVariant Identifiers: chr2:g.169984729C>T (hg19) chr2:g.169128219C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169128219C>T , CM000664.2:g.169128219C>T GRCh38
NC_000002.11:g.169984729C>T , CM000664.1:g.169984729C>T GRCh37
NC_000002.10:g.169692975C>T NCBI36
NG_012634.1:g.239394G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649046.1:c.*444G>A MANE Select ENSP00000496870.1:n.*444G>A
ENST00000650252.1:c.3403G>A ENSP00000496887.1:n.3403G>A
ENST00000263816.7:c.*444G>A ENSP00000263816.3:n.*444G>A
NM_004525.2:c.*444G>A NP_004516.2:n.*444G>A
XM_011511183.1:c.*444G>A XP_011509485.1:n.*444G>A
XM_011511184.1:c.*444G>A XP_011509486.1:n.*444G>A
NM_004525.3:c.*444G>A MANE Select NP_004516.2:n.*444G>A
XM_011511183.3:c.*444G>A XP_011509485.1:n.*444G>A
XM_011511184.2:c.*444G>A XP_011509486.1:n.*444G>A
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