Canonical Allele Identifier: CA039022
Gene: CYP2D6 HGNC NCBI

Linked Data

ClinVar Variation Id: 242771
ClinVar RCV Id: RCV000616933
dbSNP Id: rs16947
MyVariant Identifiers: chr22:g.42127941G>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42127941G>A , CM000684.2:g.42127941G>A GRCh38
NG_008376.3:g.7051C>T
NG_008376.4:g.7870C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000645361.2:c.886C>T MANE Select ENSP00000496150.1:p.Arg296Cys
ENST00000359033.4:c.733C>T ENSP00000351927.4:p.Arg245Cys
ENST00000360124.9:n.511-7C>T ENSP00000353241.5:n.511-7C>T
ENST00000360608.9:c.886C>T ENSP00000353820.5:p.Arg296Cys
ENST00000389970.7:c.820C>T ENSP00000374620.4:p.Arg274Cys
ENST00000488442.1:n.1610C>T
NM_000106.5:c.886C>T NP_000097.3:p.Arg296Cys
NM_001025161.2:c.733C>T NP_001020332.2:p.Arg245Cys
XM_011529966.1:c.886C>T XP_011528268.1:p.Arg296Cys
XM_011529967.1:c.886C>T XP_011528269.1:p.Arg296Cys
XM_011529968.1:c.886C>T XP_011528270.1:p.Arg296Cys
XM_011529969.1:c.742C>T XP_011528271.1:p.Arg248Cys
XM_011529970.1:c.733C>T XP_011528272.1:p.Arg245Cys
XM_011529971.1:c.742C>T XP_011528273.1:p.Arg248Cys
XM_011529972.1:c.843+233C>T XP_011528274.1:n.843+233C>T
NM_000106.6:c.886C>T MANE Select NP_000097.3:p.Arg296Cys
NM_001025161.3:c.733C>T NP_001020332.2:p.Arg245Cys