Canonical Allele Identifier: CA46493360
Gene: LRPPRC HGNC NCBI

Linked Data

dbSNP Id: rs979843383
gnomAD v2: 2-44114478-C-A
gnomAD v3: 2-43887339-C-A
gnomAD v4: 2-43887339-C-A
MyVariant Identifiers: chr2:g.44114478C>A (hg19) chr2:g.43887339C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43887339C>A , CM000664.2:g.43887339C>A GRCh38
NC_000002.11:g.44114478C>A , CM000664.1:g.44114478C>A GRCh37
NC_000002.10:g.43967982C>A NCBI36
NG_008247.1:g.113667G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682612.1:c.2213G>T
ENST00000684454.1:n.9310G>T
ENST00000260665.12:c.*1261G>T MANE Select ENSP00000260665.7:n.*1261G>T
ENST00000260665.11:c.*1261G>T ENSP00000260665.7:n.*1261G>T
NM_133259.3:c.*1261G>T NP_573566.2:n.*1261G>T
XR_002958896.1:n.5628G>T
NM_133259.4:c.*1261G>T MANE Select NP_573566.2:n.*1261G>T
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