Canonical Allele Identifier: CA1306397498
Gene: LRP2 HGNC NCBI

Linked Data

dbSNP Id: rs1685749212
gnomAD v3: 2-169348270-G-T
gnomAD v4: 2-169348270-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169348270G>T , CM000664.2:g.169348270G>T GRCh38
NC_000002.11:g.170204780G>T , CM000664.1:g.170204780G>T GRCh37
NC_000002.10:g.169913026G>T NCBI36
NG_012634.1:g.19343C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000649046.1:c.79+14051C>A MANE Select ENSP00000496870.1:n.79+14051C>A
ENST00000263816.7:c.79+14051C>A ENSP00000263816.3:n.79+14051C>A
ENST00000443831.1:c.79+14051C>A ENSP00000409813.1:n.79+14051C>A
NM_004525.2:c.79+14051C>A NP_004516.2:n.79+14051C>A
XM_011511183.1:c.79+14051C>A XP_011509485.1:n.79+14051C>A
XM_011511185.1:c.79+14051C>A XP_011509487.1:n.79+14051C>A
NM_004525.3:c.79+14051C>A MANE Select NP_004516.2:n.79+14051C>A
XM_011511183.3:c.79+14051C>A XP_011509485.1:n.79+14051C>A
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