Canonical Allele Identifier: CA340917
Gene: LRP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 9457
dbSNP Id: rs80338744

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169282951G>A , CM000664.2:g.169282951G>A GRCh38
NC_000002.11:g.170139461G>A , CM000664.1:g.170139461G>A GRCh37
NC_000002.10:g.169847707G>A NCBI36
NG_012634.1:g.84662C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000649046.1:c.1093C>T MANE Select ENSP00000496870.1:p.Arg365Ter
ENST00000263816.7:c.1093C>T ENSP00000263816.3:p.Arg365Ter
ENST00000443831.1:c.1093C>T ENSP00000409813.1:p.Arg365Ter
NM_004525.2:c.1093C>T NP_004516.2:p.Arg365Ter
XM_011511183.1:c.1093C>T XP_011509485.1:p.Arg365Ter
XM_011511185.1:c.1093C>T XP_011509487.1:p.Arg365Ter
NM_004525.3:c.1093C>T MANE Select NP_004516.2:p.Arg365Ter
XM_011511183.3:c.1093C>T XP_011509485.1:p.Arg365Ter