Canonical Allele Identifier: CA2650261275
Gene: CR2 HGNC NCBI

Linked Data

gnomAD v4: 1-207454283-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.207454283C>T , CM000663.2:g.207454283C>T GRCh38
NC_000001.10:g.207627628C>T , CM000663.1:g.207627628C>T GRCh37
NC_000001.9:g.205694251C>T NCBI36
NG_013006.1:g.4984C>T , LRG_348:g.4984C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000699640.1:c.-385+1188C>T ENSP00000514493.1:n.-385+1188C>T
ENST00000367057.7:c.-136C>T ENSP00000356024.3:n.-136C>T
ENST00000367058.7:c.-136C>T ENSP00000356025.3:n.-136C>T
ENST00000367059.3:c.-136C>T ENSP00000356026.3:n.-136C>T
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