Allele Registry

Canonical Allele Identifier: CA340910

Gene: LRP2 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr2:g.169185863_169185864del

GRCh37 chr2:g.170042373_170042374del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000010059

ClinVar Variation:

9451

dbSNP:

80338751

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169185864_169185865del , CM000664.2:g.169185864_169185865del	GRCh38
NC_000002.11:g.170042374_170042375del , CM000664.1:g.170042374_170042375del	GRCh37
NC_000002.10:g.169750620_169750621del	NCBI36
NG_012634.1:g.181749_181750del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.9484_9485del MANE Select	ENSP00000496870.1:p.Val3162LeufsTer2
ENST00000649153.1:c.384_385del
ENST00000263816.7:c.9484_9485del	ENSP00000263816.3:p.Val3162LeufsTer2
NM_004525.2:c.9484_9485del	NP_004516.2:p.Val3162LeufsTer2
XM_011511183.1:c.9484_9485del	XP_011509485.1:p.Val3162LeufsTer2
XM_011511184.1:c.7195_7196del	XP_011509486.1:p.Val2399LeufsTer2
XM_011511185.1:c.9484_9485del	XP_011509487.1:p.Val3162LeufsTer2
NM_004525.3:c.9484_9485del MANE Select	NP_004516.2:p.Val3162LeufsTer2
XM_011511183.3:c.9484_9485del	XP_011509485.1:p.Val3162LeufsTer2
XM_011511184.2:c.7195_7196del	XP_011509486.1:p.Val2399LeufsTer2

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