Canonical Allele Identifier: CA2650261231
Gene: CR2 HGNC NCBI

Linked Data

gnomAD v4: 1-207454242-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.207454242G>A , CM000663.2:g.207454242G>A GRCh38
NC_000001.10:g.207627587G>A , CM000663.1:g.207627587G>A GRCh37
NC_000001.9:g.205694210G>A NCBI36
NG_013006.1:g.4943G>A , LRG_348:g.4943G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000699640.1:c.-385+1147G>A ENSP00000514493.1:n.-385+1147G>A
ENST00000367057.7:c.-177G>A ENSP00000356024.3:n.-177G>A
ENST00000367058.7:c.-177G>A ENSP00000356025.3:n.-177G>A
ENST00000367059.3:c.-177G>A ENSP00000356026.3:n.-177G>A
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