Canonical Allele Identifier: CA46492862
Gene: LRPPRC HGNC NCBI

Linked Data

ClinVar Variation Id: 895304
ClinVar RCV Id: RCV001137348
dbSNP Id: rs190524585
gnomAD v2: 2-44114055-G-T
gnomAD v3: 2-43886916-G-T
gnomAD v4: 2-43886916-G-T
MyVariant Identifiers: chr2:g.44114055G>T (hg19) chr2:g.43886916G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43886916G>T , CM000664.2:g.43886916G>T GRCh38
NC_000002.11:g.44114055G>T , CM000664.1:g.44114055G>T GRCh37
NC_000002.10:g.43967559G>T NCBI36
NG_008247.1:g.114090C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682612.1:c.2636C>A
ENST00000684454.1:n.9733C>A
ENST00000260665.12:c.*1684C>A MANE Select ENSP00000260665.7:n.*1684C>A
ENST00000260665.11:c.*1684C>A ENSP00000260665.7:n.*1684C>A
NM_133259.3:c.*1684C>A NP_573566.2:n.*1684C>A
XR_002958896.1:n.6051C>A
NM_133259.4:c.*1684C>A MANE Select NP_573566.2:n.*1684C>A
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