Canonical Allele Identifier: CA429922640
Gene: LRP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.170011106A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169154596A>T , CM000664.2:g.169154596A>T GRCh38
NC_000002.11:g.170011106A>T , CM000664.1:g.170011106A>T GRCh37
NC_000002.10:g.169719352A>T NCBI36
NG_012634.1:g.213017T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649046.1:c.12159T>A MANE Select ENSP00000496870.1:p.Ser4053=
ENST00000649153.1:c.3059T>A
ENST00000650252.1:c.1187T>A ENSP00000496887.1:p.Leu396His
ENST00000263816.7:c.12159T>A ENSP00000263816.3:p.Ser4053=
NM_004525.2:c.12159T>A NP_004516.2:p.Ser4053=
XM_011511183.1:c.12030T>A XP_011509485.1:p.Ser4010=
XM_011511184.1:c.9870T>A XP_011509486.1:p.Ser3290=
NM_004525.3:c.12159T>A MANE Select NP_004516.2:p.Ser4053=
XM_011511183.3:c.12030T>A XP_011509485.1:p.Ser4010=
XM_011511184.2:c.9870T>A XP_011509486.1:p.Ser3290=