Canonical Allele Identifier: CA153566
Gene: LRP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 129509
ClinVar RCV Id: RCV000117517 RCV000384323 RCV001523142
dbSNP Id: rs33954745
ExAC: 2:170115672 A / G
gnomAD v2: 2-170115672-A-G
gnomAD v3: 2-169259162-A-G
gnomAD v4: 2-169259162-A-G
MyVariant Identifiers: chr2:g.170115672A>G (hg19) chr2:g.169259162A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169259162A>G , CM000664.2:g.169259162A>G GRCh38
NC_000002.11:g.170115672A>G , CM000664.1:g.170115672A>G GRCh37
NC_000002.10:g.169823918A>G NCBI36
NG_012634.1:g.108451T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649046.1:c.2376T>C MANE Select ENSP00000496870.1:p.Asp792=
ENST00000263816.7:c.2376T>C ENSP00000263816.3:p.Asp792=
ENST00000443831.1:c.1965T>C ENSP00000409813.1:p.Asp655=
NM_004525.2:c.2376T>C NP_004516.2:p.Asp792=
XM_011511183.1:c.2376T>C XP_011509485.1:p.Asp792=
XM_011511184.1:c.87T>C XP_011509486.1:p.Asp29=
XM_011511185.1:c.2376T>C XP_011509487.1:p.Asp792=
NM_004525.3:c.2376T>C MANE Select NP_004516.2:p.Asp792=
XM_011511183.3:c.2376T>C XP_011509485.1:p.Asp792=
XM_011511184.2:c.87T>C XP_011509486.1:p.Asp29=
Search 100 bp 5'
Search 100 bp 3'