Canonical Allele Identifier: CA349158642
Gene: LRP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169259185T>G , CM000664.2:g.169259185T>G GRCh38
NC_000002.11:g.170115695T>G , CM000664.1:g.170115695T>G GRCh37
NC_000002.10:g.169823941T>G NCBI36
NG_012634.1:g.108428A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649046.1:c.2353A>C MANE Select ENSP00000496870.1:p.Asn785His
ENST00000263816.7:c.2353A>C ENSP00000263816.3:p.Asn785His
ENST00000443831.1:c.1942A>C ENSP00000409813.1:p.Asn648His
NM_004525.2:c.2353A>C NP_004516.2:p.Asn785His
XM_011511183.1:c.2353A>C XP_011509485.1:p.Asn785His
XM_011511184.1:c.64A>C XP_011509486.1:p.Asn22His
XM_011511185.1:c.2353A>C XP_011509487.1:p.Asn785His
NM_004525.3:c.2353A>C MANE Select NP_004516.2:p.Asn785His
XM_011511183.3:c.2353A>C XP_011509485.1:p.Asn785His
XM_011511184.2:c.64A>C XP_011509486.1:p.Asn22His