Canonical Allele Identifier: CA2661815141
Gene: LRP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2810994
ClinVar RCV Id: RCV003682688

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169154621G>T , CM000664.2:g.169154621G>T GRCh38
NC_000002.11:g.170011131G>T , CM000664.1:g.170011131G>T GRCh37
NC_000002.10:g.169719377G>T NCBI36
NG_012634.1:g.212992C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649046.1:c.12152-18C>A MANE Select ENSP00000496870.1:n.12152-18C>A
ENST00000649153.1:c.3052-18C>A
ENST00000650252.1:c.1184-22C>A ENSP00000496887.1:n.1184-22C>A
ENST00000263816.7:c.12152-18C>A ENSP00000263816.3:n.12152-18C>A
NM_004525.2:c.12152-18C>A NP_004516.2:n.12152-18C>A
XM_011511183.1:c.12023-18C>A XP_011509485.1:n.12023-18C>A
XM_011511184.1:c.9863-18C>A XP_011509486.1:n.9863-18C>A
NM_004525.3:c.12152-18C>A MANE Select NP_004516.2:n.12152-18C>A
XM_011511183.3:c.12023-18C>A XP_011509485.1:n.12023-18C>A
XM_011511184.2:c.9863-18C>A XP_011509486.1:n.9863-18C>A