Canonical Allele Identifier: CA14942133
Gene: CYP2D6 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.42131791C>T
GRCh37 chr22:g.42527793C>T
gnomAD v2:
22:42527793 C / T
gnomAD v3:
22:42131791 C / T
gnomAD v4:
chr22-42131791-C-T
Joint Max Group AF 0.52515421 (EAS)
Genomes Max Group AF 0.52515421 (EAS)
ClinVar Allele:
818103
ClinVar RCV:
RCV001028722
ClinVar Variation:
828811
dbSNP:
1080989
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42131791C>T , CM000684.2:g.42131791C>T GRCh38
NC_000022.10:g.42527793C>T , CM000684.1:g.42527793C>T GRCh37
NC_000022.9:g.40857737C>T NCBI36
NG_008376.3:g.3201G>A
NG_008376.4:g.4020G>A

Transcript Alleles

HGVS Amino-acid Change
XM_011529966.1:c.-1000G>A XP_011528268.1:n.-1000G>A
XM_011529967.1:c.-1000G>A XP_011528269.1:n.-1000G>A
XM_011529968.1:c.-1000G>A XP_011528270.1:n.-1000G>A
XM_011529969.1:c.-458G>A XP_011528271.1:n.-458G>A
XM_011529970.1:c.-1000G>A XP_011528272.1:n.-1000G>A
XM_011529971.1:c.-458G>A XP_011528273.1:n.-458G>A
XM_011529972.1:c.-1000G>A XP_011528274.1:n.-1000G>A
XR_430455.2:n.329-263C>T
XR_002958749.1:n.276-263C>T
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