Canonical Allele Identifier: CA324677227
Gene: CYP2D6 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.42132375G>C
gnomAD v3:
22:42132375 G / C
gnomAD v4:
chr22-42132375-G-C
Joint Max Group AF 0.24407674 (MID)
Genomes Max Group AF 0.24085499 (SAS)
Exomes Max Group AF 0.14247622 (NFE)
ClinVar RCV:
RCV000734611
ClinVar Variation:
39377
dbSNP:
1080985
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42132375G>C , CM000684.2:g.42132375G>C GRCh38
NG_008376.3:g.2617C>G
NG_008376.4:g.3436C>G

Transcript Alleles

HGVS Amino-acid Change
XM_011529967.1:c.-1045-539C>G XP_011528269.1:n.-1045-539C>G
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