Canonical Allele Identifier: CA10264631
Gene: CYP2D6 HGNC NCBI
COSMIC:
COSM228756
COSM228757
dbSNP:
61731586
gnomAD v2:
22:42523483 C / T
gnomAD v3:
22:42127481 C / T
gnomAD v4:
chr22-42127481-C-T
Joint Max Group AF 0.02114227 (MID)
Genomes Max Group AF 0.00325797 (AFR)
Exomes Max Group AF 0.02228397 (MID)
MyVariant.info:
GRCh38 chr22:g.42127481C>T
GRCh38 chr22:g.42127481_42127491delinsTGGGATGTCAT
GRCh37 chr22:g.42523483C>T
GRCh37 chr22:g.42523483_42523493delinsTGGGATGTCAT
Revel Score:
ENST00000360608 0.140
ENST00000389970 0.140
ENST00000413640 0.140
ENST00000359033 0.140
ENST00000542856 0.140
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42127481C>T , CM000684.2:g.42127481C>T GRCh38
NC_000022.10:g.42523483C>T , CM000684.1:g.42523483C>T GRCh37
NC_000022.9:g.40853427C>T NCBI36
NG_008376.3:g.7511G>A
NG_008376.4:g.8330G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360124.10:c.937G>A ENSP00000353241.6:n.937G>A
ENST00000645361.2:c.1139G>A MANE Select ENSP00000496150.1:p.Arg380His
ENST00000359033.4:c.986G>A ENSP00000351927.4:p.Arg329His
ENST00000360124.9:c.757G>A ENSP00000353241.5:n.757G>A
ENST00000360608.9:c.1139G>A ENSP00000353820.5:p.Arg380His
ENST00000389970.7:c.1130G>A ENSP00000374620.4:p.Arg377His
ENST00000488442.1:n.1863G>A
NM_000106.5:c.1139G>A NP_000097.3:p.Arg380His
NM_001025161.2:c.986G>A NP_001020332.2:p.Arg329His
XM_011529966.1:c.1139G>A XP_011528268.1:p.Arg380His
XM_011529967.1:c.1139G>A XP_011528269.1:p.Arg380His
XM_011529968.1:c.1139G>A XP_011528270.1:p.Arg380His
XM_011529969.1:c.995G>A XP_011528271.1:p.Arg332His
XM_011529970.1:c.986G>A XP_011528272.1:p.Arg329His
XM_011529971.1:c.995G>A XP_011528273.1:p.Arg332His
NM_000106.6:c.1139G>A MANE Select NP_000097.3:p.Arg380His
NM_001025161.3:c.986G>A NP_001020332.2:p.Arg329His
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