Canonical Allele Identifier: CA10265248
Gene: CYP2D6 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.42129765T>C
GRCh37 chr22:g.42525767T>C
Revel Score:
ENST00000360608 0.045
ENST00000389970 0.045
ENST00000413640 0.045
ENST00000359033 0.045
ENST00000542856 0.045
gnomAD v2:
22:42525767 T / C
gnomAD v3:
22:42129765 T / C
gnomAD v4:
chr22-42129765-T-C
Joint Max Group AF 0.00431336 (AMR)
Genomes Max Group AF 0.00433099 (AMR)
Exomes Max Group AF 0.00408285 (AMR)
dbSNP:
78459009
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42129765T>C , CM000684.2:g.42129765T>C GRCh38
NC_000022.10:g.42525767T>C , CM000684.1:g.42525767T>C GRCh37
NC_000022.9:g.40855711T>C NCBI36
NG_008376.3:g.5227A>G
NG_008376.4:g.6046A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360124.10:c.325A>G ENSP00000353241.6:p.Ile109Val
ENST00000645361.2:c.325A>G MANE Select ENSP00000496150.1:p.Ile109Val
ENST00000359033.4:c.325A>G ENSP00000351927.4:p.Ile109Val
ENST00000360124.9:c.145A>G ENSP00000353241.5:p.Ile49Val
ENST00000360608.9:c.325A>G ENSP00000353820.5:p.Ile109Val
ENST00000389970.7:c.259A>G ENSP00000374620.4:p.Ile87Val
ENST00000488442.1:n.1049A>G
NM_000106.5:c.325A>G NP_000097.3:p.Ile109Val
NM_001025161.2:c.325A>G NP_001020332.2:p.Ile109Val
XM_011529966.1:c.325A>G XP_011528268.1:p.Ile109Val
XM_011529967.1:c.325A>G XP_011528269.1:p.Ile109Val
XM_011529968.1:c.325A>G XP_011528270.1:p.Ile109Val
XM_011529969.1:c.182A>G XP_011528271.1:p.Asp61Gly
XM_011529970.1:c.325A>G XP_011528272.1:p.Ile109Val
XM_011529971.1:c.182A>G XP_011528273.1:p.Asp61Gly
XM_011529972.1:c.325A>G XP_011528274.1:p.Ile109Val
NM_000106.6:c.325A>G MANE Select NP_000097.3:p.Ile109Val
NM_001025161.3:c.325A>G NP_001020332.2:p.Ile109Val
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