Canonical Allele Identifier: CA2577149107
Gene: LRP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2817139
ClinVar RCV Id: RCV003711136

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169154616A>G , CM000664.2:g.169154616A>G GRCh38
NC_000002.11:g.170011126A>G , CM000664.1:g.170011126A>G GRCh37
NC_000002.10:g.169719372A>G NCBI36
NG_012634.1:g.212997T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649046.1:c.12152-13T>C MANE Select ENSP00000496870.1:n.12152-13T>C
ENST00000649153.1:c.3052-13T>C
ENST00000650252.1:c.1184-17T>C ENSP00000496887.1:n.1184-17T>C
ENST00000263816.7:c.12152-13T>C ENSP00000263816.3:n.12152-13T>C
NM_004525.2:c.12152-13T>C NP_004516.2:n.12152-13T>C
XM_011511183.1:c.12023-13T>C XP_011509485.1:n.12023-13T>C
XM_011511184.1:c.9863-13T>C XP_011509486.1:n.9863-13T>C
NM_004525.3:c.12152-13T>C MANE Select NP_004516.2:n.12152-13T>C
XM_011511183.3:c.12023-13T>C XP_011509485.1:n.12023-13T>C
XM_011511184.2:c.9863-13T>C XP_011509486.1:n.9863-13T>C