Canonical Allele Identifier: CA10265158
Gene: CYP2D6 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.42129180A>T
GRCh37 chr22:g.42525182A>T
Revel Score:
ENST00000360608 0.105
ENST00000389970 0.105
ENST00000413640 0.105
gnomAD v2:
22:42525182 A / T
gnomAD v3:
22:42129180 A / T
gnomAD v4:
chr22-42129180-A-T
Joint Max Group AF 0.00809125 (EAS)
Genomes Max Group AF 0.00535565 (EAS)
Exomes Max Group AF 0.00824942 (EAS)
dbSNP:
1135822
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42129180A>T , CM000684.2:g.42129180A>T GRCh38
NC_000022.10:g.42525182A>T , CM000684.1:g.42525182A>T GRCh37
NC_000022.9:g.40855126A>T NCBI36
NG_008376.3:g.5812T>A
NG_008376.4:g.6631T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360124.10:c.353-236T>A ENSP00000353241.6:n.353-236T>A
ENST00000645361.2:c.358T>A MANE Select ENSP00000496150.1:p.Phe120Ile
ENST00000359033.4:c.353-236T>A ENSP00000351927.4:n.353-236T>A
ENST00000360124.9:c.173-236T>A ENSP00000353241.5:n.173-236T>A
ENST00000360608.9:c.358T>A ENSP00000353820.5:p.Phe120Ile
ENST00000389970.7:c.292T>A ENSP00000374620.4:p.Phe98Ile
ENST00000488442.1:n.1082T>A
NM_000106.5:c.358T>A NP_000097.3:p.Phe120Ile
NM_001025161.2:c.353-236T>A NP_001020332.2:n.353-236T>A
XM_011529966.1:c.358T>A XP_011528268.1:p.Phe120Ile
XM_011529967.1:c.358T>A XP_011528269.1:p.Phe120Ile
XM_011529968.1:c.358T>A XP_011528270.1:p.Phe120Ile
XM_011529969.1:c.215T>A XP_011528271.1:p.Val72Asp
XM_011529970.1:c.353-236T>A XP_011528272.1:n.353-236T>A
XM_011529971.1:c.215T>A XP_011528273.1:p.Val72Asp
XM_011529972.1:c.358T>A XP_011528274.1:p.Phe120Ile
NM_000106.6:c.358T>A MANE Select NP_000097.3:p.Phe120Ile
NM_001025161.3:c.353-236T>A NP_001020332.2:n.353-236T>A
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