Canonical Allele Identifier: CA36635017
Gene: CR2 HGNC NCBI

Linked Data

dbSNP Id: rs933613035
gnomAD v2: 1-207627257-C-G
gnomAD v3: 1-207453912-C-G
gnomAD v4: 1-207453912-C-G
MyVariant Identifiers: chr1:g.207627257C>G (hg19) chr1:g.207453912C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.207453912C>G , CM000663.2:g.207453912C>G GRCh38
NC_000001.10:g.207627257C>G , CM000663.1:g.207627257C>G GRCh37
NC_000001.9:g.205693880C>G NCBI36
NG_013006.1:g.4613C>G , LRG_348:g.4613C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000699640.1:c.-385+817C>G ENSP00000514493.1:n.-385+817C>G
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