Canonical Allele Identifier: CA16617324
Gene: LRP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 423750
ClinVar RCV Id: RCV000487419
dbSNP Id: rs1064796610

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169259218C>A , CM000664.2:g.169259218C>A GRCh38
NC_000002.11:g.170115728C>A , CM000664.1:g.170115728C>A GRCh37
NC_000002.10:g.169823974C>A NCBI36
NG_012634.1:g.108395G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000649046.1:c.2321-1G>T MANE Select ENSP00000496870.1:n.2321-1G>T
ENST00000263816.7:c.2321-1G>T ENSP00000263816.3:n.2321-1G>T
ENST00000443831.1:c.1910-1G>T ENSP00000409813.1:n.1910-1G>T
NM_004525.2:c.2321-1G>T NP_004516.2:n.2321-1G>T
XM_011511183.1:c.2321-1G>T XP_011509485.1:n.2321-1G>T
XM_011511184.1:c.32-1G>T XP_011509486.1:n.32-1G>T
XM_011511185.1:c.2321-1G>T XP_011509487.1:n.2321-1G>T
NM_004525.3:c.2321-1G>T MANE Select NP_004516.2:n.2321-1G>T
XM_011511183.3:c.2321-1G>T XP_011509485.1:n.2321-1G>T
XM_011511184.2:c.32-1G>T XP_011509486.1:n.32-1G>T