Canonical Allele Identifier: CA429921158
Gene: LRP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.170115699C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169259189C>G , CM000664.2:g.169259189C>G GRCh38
NC_000002.11:g.170115699C>G , CM000664.1:g.170115699C>G GRCh37
NC_000002.10:g.169823945C>G NCBI36
NG_012634.1:g.108424G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649046.1:c.2349G>C MANE Select ENSP00000496870.1:p.Val783=
ENST00000263816.7:c.2349G>C ENSP00000263816.3:p.Val783=
ENST00000443831.1:c.1938G>C ENSP00000409813.1:p.Val646=
NM_004525.2:c.2349G>C NP_004516.2:p.Val783=
XM_011511183.1:c.2349G>C XP_011509485.1:p.Val783=
XM_011511184.1:c.60G>C XP_011509486.1:p.Val20=
XM_011511185.1:c.2349G>C XP_011509487.1:p.Val783=
NM_004525.3:c.2349G>C MANE Select NP_004516.2:p.Val783=
XM_011511183.3:c.2349G>C XP_011509485.1:p.Val783=
XM_011511184.2:c.60G>C XP_011509486.1:p.Val20=