Canonical Allele Identifier: CA2661815134

Gene: LRP2

Linked Data

• gnomAD v4: 2-169154513-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154514del , CM000664.2:g.169154514del	GRCh38
NC_000002.11:g.170011024del , CM000664.1:g.170011024del	GRCh37
NC_000002.10:g.169719270del	NCBI36
NG_012634.1:g.213099del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.12241del MANE Select	ENSP00000496870.1:p.Glu4081ArgfsTer16
ENST00000649153.1:c.3141del
ENST00000650252.1:c.1269del	ENSP00000496887.1:p.Met423IlefsTer8
ENST00000263816.7:c.12241del	ENSP00000263816.3:p.Glu4081ArgfsTer16
NM_004525.2:c.12241del	NP_004516.2:p.Glu4081ArgfsTer16
XM_011511183.1:c.12112del	XP_011509485.1:p.Glu4038ArgfsTer16
XM_011511184.1:c.9952del	XP_011509486.1:p.Glu3318ArgfsTer16
NM_004525.3:c.12241del MANE Select	NP_004516.2:p.Glu4081ArgfsTer16
XM_011511183.3:c.12112del	XP_011509485.1:p.Glu4038ArgfsTer16
XM_011511184.2:c.9952del	XP_011509486.1:p.Glu3318ArgfsTer16