Canonical Allele Identifier: CA1952430
Gene: LRP2 HGNC NCBI
COSMIC:
COSM32383
MyVariant.info:
GRCh38 chr2:g.169129060G>A
GRCh37 chr2:g.169985570G>A
gnomAD v2:
2:169985570 G / A
gnomAD v3:
2:169129060 G / A
gnomAD v4:
chr2-169129060-G-A
Joint Max Group AF 0.00001379 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001298 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169129060G>A , CM000664.2:g.169129060G>A GRCh38
NC_000002.11:g.169985570G>A , CM000664.1:g.169985570G>A GRCh37
NC_000002.10:g.169693816G>A NCBI36
NG_012634.1:g.238553C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649046.1:c.13753C>T MANE Select ENSP00000496870.1:p.Arg4585Ter
ENST00000649153.1:c.4562C>T
ENST00000650252.1:c.2744C>T ENSP00000496887.1:n.2744C>T
ENST00000263816.7:c.13753C>T ENSP00000263816.3:p.Arg4585Ter
NM_004525.2:c.13753C>T NP_004516.2:p.Arg4585Ter
XM_011511183.1:c.13624C>T XP_011509485.1:p.Arg4542Ter
XM_011511184.1:c.11464C>T XP_011509486.1:p.Arg3822Ter
NM_004525.3:c.13753C>T MANE Select NP_004516.2:p.Arg4585Ter
XM_011511183.3:c.13624C>T XP_011509485.1:p.Arg4542Ter
XM_011511184.2:c.11464C>T XP_011509486.1:p.Arg3822Ter
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