Canonical Allele Identifier: CA349158158
Gene: LRP2 HGNC NCBI

Linked Data

dbSNP Id: rs1426119637

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169259069C>G , CM000664.2:g.169259069C>G GRCh38
NC_000002.11:g.170115579C>G , CM000664.1:g.170115579C>G GRCh37
NC_000002.10:g.169823825C>G NCBI36
NG_012634.1:g.108544G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649046.1:c.2469G>C MANE Select ENSP00000496870.1:p.Gln823His
ENST00000263816.7:c.2469G>C ENSP00000263816.3:p.Gln823His
ENST00000443831.1:c.2058G>C ENSP00000409813.1:p.Gln686His
NM_004525.2:c.2469G>C NP_004516.2:p.Gln823His
XM_011511183.1:c.2469G>C XP_011509485.1:p.Gln823His
XM_011511184.1:c.180G>C XP_011509486.1:p.Gln60His
XM_011511185.1:c.2469G>C XP_011509487.1:p.Gln823His
NM_004525.3:c.2469G>C MANE Select NP_004516.2:p.Gln823His
XM_011511183.3:c.2469G>C XP_011509485.1:p.Gln823His
XM_011511184.2:c.180G>C XP_011509486.1:p.Gln60His