Canonical Allele Identifier: CA46492790
Gene: LRPPRC HGNC NCBI

Linked Data

dbSNP Id: rs113545857
gnomAD v4: 2-43886898-T-C
MyVariant Identifiers: chr2:g.44114037T>C (hg19) chr2:g.43886898T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43886898T>C , CM000664.2:g.43886898T>C GRCh38
NC_000002.11:g.44114037T>C , CM000664.1:g.44114037T>C GRCh37
NC_000002.10:g.43967541T>C NCBI36
NG_008247.1:g.114108A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682612.1:c.2654A>G
ENST00000684454.1:n.9751A>G
ENST00000260665.12:c.*1702A>G MANE Select ENSP00000260665.7:n.*1702A>G
ENST00000260665.11:c.*1702A>G ENSP00000260665.7:n.*1702A>G
NM_133259.3:c.*1702A>G NP_573566.2:n.*1702A>G
XR_002958896.1:n.6069A>G
NM_133259.4:c.*1702A>G MANE Select NP_573566.2:n.*1702A>G
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