Canonical Allele Identifier: CA349158180
Gene: LRP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1385411
ClinVar RCV Id: RCV001888811 RCV002552925
dbSNP Id: rs1222200565
gnomAD v2: 2-170115584-C-T
gnomAD v3: 2-169259074-C-T
gnomAD v4: 2-169259074-C-T
MyVariant Identifiers: chr2:g.170115584C>T (hg19) chr2:g.169259074C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169259074C>T , CM000664.2:g.169259074C>T GRCh38
NC_000002.11:g.170115584C>T , CM000664.1:g.170115584C>T GRCh37
NC_000002.10:g.169823830C>T NCBI36
NG_012634.1:g.108539G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649046.1:c.2464G>A MANE Select ENSP00000496870.1:p.Val822Ile
ENST00000263816.7:c.2464G>A ENSP00000263816.3:p.Val822Ile
ENST00000443831.1:c.2053G>A ENSP00000409813.1:p.Val685Ile
NM_004525.2:c.2464G>A NP_004516.2:p.Val822Ile
XM_011511183.1:c.2464G>A XP_011509485.1:p.Val822Ile
XM_011511184.1:c.175G>A XP_011509486.1:p.Val59Ile
XM_011511185.1:c.2464G>A XP_011509487.1:p.Val822Ile
NM_004525.3:c.2464G>A MANE Select NP_004516.2:p.Val822Ile
XM_011511183.3:c.2464G>A XP_011509485.1:p.Val822Ile
XM_011511184.2:c.175G>A XP_011509486.1:p.Val59Ile
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