Canonical Allele Identifier: CA46493212
Gene: LRPPRC HGNC NCBI

Linked Data

dbSNP Id: rs75248019
gnomAD v4: 2-43887163-A-G
MyVariant Identifiers: chr2:g.44114302A>G (hg19) chr2:g.43887163A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43887163A>G , CM000664.2:g.43887163A>G GRCh38
NC_000002.11:g.44114302A>G , CM000664.1:g.44114302A>G GRCh37
NC_000002.10:g.43967806A>G NCBI36
NG_008247.1:g.113843T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682612.1:c.2389T>C
ENST00000684454.1:n.9486T>C
ENST00000260665.12:c.*1437T>C MANE Select ENSP00000260665.7:n.*1437T>C
ENST00000260665.11:c.*1437T>C ENSP00000260665.7:n.*1437T>C
NM_133259.3:c.*1437T>C NP_573566.2:n.*1437T>C
XR_002958896.1:n.5804T>C
NM_133259.4:c.*1437T>C MANE Select NP_573566.2:n.*1437T>C
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