Canonical Allele Identifier: CA1011643195
Gene: CR2 HGNC NCBI

Linked Data

dbSNP Id: rs1657768734
gnomAD v3: 1-207454280-T-C
gnomAD v4: 1-207454280-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.207454280T>C , CM000663.2:g.207454280T>C GRCh38
NC_000001.10:g.207627625T>C , CM000663.1:g.207627625T>C GRCh37
NC_000001.9:g.205694248T>C NCBI36
NG_013006.1:g.4981T>C , LRG_348:g.4981T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000699640.1:c.-385+1185T>C ENSP00000514493.1:n.-385+1185T>C
ENST00000367057.7:c.-139T>C ENSP00000356024.3:n.-139T>C
ENST00000367058.7:c.-139T>C ENSP00000356025.3:n.-139T>C
ENST00000367059.3:c.-139T>C ENSP00000356026.3:n.-139T>C
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