Canonical Allele Identifier: CA349152188
Gene: LRP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1395454
ClinVar RCV Id: RCV001919718
dbSNP Id: rs1433571925
gnomAD v2: 2-170139392-T-C
MyVariant Identifiers: chr2:g.170139392T>C (hg19) chr2:g.169282882T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169282882T>C , CM000664.2:g.169282882T>C GRCh38
NC_000002.11:g.170139392T>C , CM000664.1:g.170139392T>C GRCh37
NC_000002.10:g.169847638T>C NCBI36
NG_012634.1:g.84731A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649046.1:c.1162A>G MANE Select ENSP00000496870.1:p.Asn388Asp
ENST00000263816.7:c.1162A>G ENSP00000263816.3:p.Asn388Asp
ENST00000443831.1:c.1162A>G ENSP00000409813.1:p.Asn388Asp
NM_004525.2:c.1162A>G NP_004516.2:p.Asn388Asp
XM_011511183.1:c.1162A>G XP_011509485.1:p.Asn388Asp
XM_011511185.1:c.1162A>G XP_011509487.1:p.Asn388Asp
NM_004525.3:c.1162A>G MANE Select NP_004516.2:p.Asn388Asp
XM_011511183.3:c.1162A>G XP_011509485.1:p.Asn388Asp
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