Canonical Allele Identifier: CA59919414
Gene: LRP2 HGNC NCBI

Linked Data

dbSNP Id: rs80338746
MyVariant Identifiers: chr2:g.170103957T>C (hg19) chr2:g.169247447T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169247447T>C , CM000664.2:g.169247447T>C GRCh38
NC_000002.11:g.170103957T>C , CM000664.1:g.170103957T>C GRCh37
NC_000002.10:g.169812203T>C NCBI36
NG_012634.1:g.120166A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000649046.1:c.2839A>G MANE Select ENSP00000496870.1:p.Met947Val
ENST00000263816.7:c.2839A>G ENSP00000263816.3:p.Met947Val
ENST00000443831.1:c.2428A>G ENSP00000409813.1:p.Met810Val
NM_004525.2:c.2839A>G NP_004516.2:p.Met947Val
XM_011511183.1:c.2839A>G XP_011509485.1:p.Met947Val
XM_011511184.1:c.550A>G XP_011509486.1:p.Met184Val
XM_011511185.1:c.2839A>G XP_011509487.1:p.Met947Val
NM_004525.3:c.2839A>G MANE Select NP_004516.2:p.Met947Val
XM_011511183.3:c.2839A>G XP_011509485.1:p.Met947Val
XM_011511184.2:c.550A>G XP_011509486.1:p.Met184Val
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