Canonical Allele Identifier: CA14942136
Gene: CYP2D6 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.42132969C>T
GRCh37 chr22:g.42528976C>T
gnomAD v2:
22:42528976 C / T
gnomAD v3:
22:42132969 C / T
gnomAD v4:
chr22-42132969-C-T
Joint Max Group AF 0.53339796 (EAS)
Genomes Max Group AF 0.52449915 (EAS)
Exomes Max Group AF 0.64782148 (EAS)
dbSNP:
28360521
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42132969C>T , CM000684.2:g.42132969C>T GRCh38
NC_000022.10:g.42528976C>T , CM000684.1:g.42528976C>T GRCh37
NC_000022.9:g.40858920C>T NCBI36
NG_008376.3:g.2023G>A
NG_008376.4:g.2842G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000417586.1:n.427C>T
XM_011529967.1:c.-1045-1133G>A XP_011528269.1:n.-1045-1133G>A
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