Canonical Allele Identifier: CA36635135
Gene: CR2 HGNC NCBI

Linked Data

dbSNP Id: rs751675898
gnomAD v4: 1-207454096-CAAGT-C
MyVariant Identifiers: chr1:g.207627442_207627445del (hg19) chr1:g.207454097_207454100del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.207454097_207454100del , CM000663.2:g.207454097_207454100del GRCh38
NC_000001.10:g.207627442_207627445del , CM000663.1:g.207627442_207627445del GRCh37
NC_000001.9:g.205694065_205694068del NCBI36
NG_013006.1:g.4798_4801del , LRG_348:g.4798_4801del

Transcript Alleles

HGVS Amino-acid Change
ENST00000699640.1:c.-385+1002_-385+1005del ENSP00000514493.1:n.-385+1002_-385+1005del
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