Allele Registry

Canonical Allele Identifier: CA342048

Gene: LRP2 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr2:g.169185989_169185990del

GRCh37 chr2:g.170042499_170042500del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000020606

ClinVar Variation:

21421

dbSNP:

80338750

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169185989_169185990del , CM000664.2:g.169185989_169185990del	GRCh38
NC_000002.11:g.170042499_170042500del , CM000664.1:g.170042499_170042500del	GRCh37
NC_000002.10:g.169750745_169750746del	NCBI36
NG_012634.1:g.181623_181624del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.9358_9359del MANE Select	ENSP00000496870.1:p.Ser3120TrpfsTer26
ENST00000649153.1:c.258_259del
ENST00000263816.7:c.9358_9359del	ENSP00000263816.3:p.Ser3120TrpfsTer26
NM_004525.2:c.9358_9359del	NP_004516.2:p.Ser3120TrpfsTer26
XM_011511183.1:c.9358_9359del	XP_011509485.1:p.Ser3120TrpfsTer26
XM_011511184.1:c.7069_7070del	XP_011509486.1:p.Ser2357TrpfsTer26
XM_011511185.1:c.9358_9359del	XP_011509487.1:p.Ser3120TrpfsTer26
NM_004525.3:c.9358_9359del MANE Select	NP_004516.2:p.Ser3120TrpfsTer26
XM_011511183.3:c.9358_9359del	XP_011509485.1:p.Ser3120TrpfsTer26
XM_011511184.2:c.7069_7070del	XP_011509486.1:p.Ser2357TrpfsTer26

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