Canonical Allele Identifier: CA532289371
Gene: LRPPRC HGNC NCBI

Linked Data

dbSNP Id: rs185767322
gnomAD v2: 2-44114050-C-G
gnomAD v3: 2-43886911-C-G
gnomAD v4: 2-43886911-C-G
MyVariant Identifiers: chr2:g.44114050C>G (hg19) chr2:g.43886911C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43886911C>G , CM000664.2:g.43886911C>G GRCh38
NC_000002.11:g.44114050C>G , CM000664.1:g.44114050C>G GRCh37
NC_000002.10:g.43967554C>G NCBI36
NG_008247.1:g.114095G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682612.1:c.2641G>C
ENST00000684454.1:n.9738G>C
ENST00000260665.12:c.*1689G>C MANE Select ENSP00000260665.7:n.*1689G>C
ENST00000260665.11:c.*1689G>C ENSP00000260665.7:n.*1689G>C
NM_133259.3:c.*1689G>C NP_573566.2:n.*1689G>C
XR_002958896.1:n.6056G>C
NM_133259.4:c.*1689G>C MANE Select NP_573566.2:n.*1689G>C
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