Canonical Allele Identifier: CA2661823184
Gene: LRP2 HGNC NCBI

Linked Data

gnomAD v4: 2-169247364-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169247364G>T , CM000664.2:g.169247364G>T GRCh38
NC_000002.11:g.170103874G>T , CM000664.1:g.170103874G>T GRCh37
NC_000002.10:g.169812120G>T NCBI36
NG_012634.1:g.120249C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000649046.1:c.2908+14C>A MANE Select ENSP00000496870.1:n.2908+14C>A
ENST00000263816.7:c.2908+14C>A ENSP00000263816.3:n.2908+14C>A
ENST00000443831.1:c.2497+14C>A ENSP00000409813.1:n.2497+14C>A
NM_004525.2:c.2908+14C>A NP_004516.2:n.2908+14C>A
XM_011511183.1:c.2908+14C>A XP_011509485.1:n.2908+14C>A
XM_011511184.1:c.619+14C>A XP_011509486.1:n.619+14C>A
XM_011511185.1:c.2908+14C>A XP_011509487.1:n.2908+14C>A
NM_004525.3:c.2908+14C>A MANE Select NP_004516.2:n.2908+14C>A
XM_011511183.3:c.2908+14C>A XP_011509485.1:n.2908+14C>A
XM_011511184.2:c.619+14C>A XP_011509486.1:n.619+14C>A
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