Canonical Allele Identifier: CA2650261367
Gene: CR2 HGNC NCBI

Linked Data

gnomAD v4: 1-207454361-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.207454362del , CM000663.2:g.207454362del GRCh38
NC_000001.10:g.207627707del , CM000663.1:g.207627707del GRCh37
NC_000001.9:g.205694330del NCBI36
NG_013006.1:g.5063del , LRG_348:g.5063del

Transcript Alleles

HGVS Amino-acid Change
ENST00000699620.1:c.-499del ENSP00000514480.1:n.-499del
ENST00000699640.1:c.-385+1267del ENSP00000514493.1:n.-385+1267del
ENST00000367057.8:c.-57del MANE Select ENSP00000356024.3:n.-57del
ENST00000367057.7:c.-57del ENSP00000356024.3:n.-57del
ENST00000367058.7:c.-57del ENSP00000356025.3:n.-57del
ENST00000367059.3:c.-57del ENSP00000356026.3:n.-57del
NM_001006658.2:c.-57del , LRG_348t1:c.-57del NP_001006659.1:n.-57del
NM_001877.4:c.-57del NP_001868.2:n.-57del
NM_001006658.3:c.-57del MANE Select NP_001006659.1:n.-57del
NM_001877.5:c.-57del NP_001868.2:n.-57del
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