Canonical Allele Identifier: CA429922611
Gene: LRP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2799891
ClinVar RCV Id: RCV003671195
MyVariant Identifiers: chr2:g.170011088A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169154578A>C , CM000664.2:g.169154578A>C GRCh38
NC_000002.11:g.170011088A>C , CM000664.1:g.170011088A>C GRCh37
NC_000002.10:g.169719334A>C NCBI36
NG_012634.1:g.213035T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649046.1:c.12177T>G MANE Select ENSP00000496870.1:p.Pro4059=
ENST00000649153.1:c.3077T>G
ENST00000650252.1:c.1205T>G ENSP00000496887.1:p.Leu402Arg
ENST00000263816.7:c.12177T>G ENSP00000263816.3:p.Pro4059=
NM_004525.2:c.12177T>G NP_004516.2:p.Pro4059=
XM_011511183.1:c.12048T>G XP_011509485.1:p.Pro4016=
XM_011511184.1:c.9888T>G XP_011509486.1:p.Pro3296=
NM_004525.3:c.12177T>G MANE Select NP_004516.2:p.Pro4059=
XM_011511183.3:c.12048T>G XP_011509485.1:p.Pro4016=
XM_011511184.2:c.9888T>G XP_011509486.1:p.Pro3296=