Canonical Allele Identifier: CA411773164
Gene: CYP2D6 HGNC NCBI

Linked Data

ClinVar Variation Id: 2486829
ClinVar RCV Id: RCV004275395

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42128215G>T , CM000684.2:g.42128215G>T GRCh38
NC_000022.10:g.42524217G>T , CM000684.1:g.42524217G>T GRCh37
NC_000022.9:g.40854161G>T NCBI36
NG_008376.3:g.6777C>A
NG_008376.4:g.7596C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360124.10:c.649C>A ENSP00000353241.6:p.Pro217Thr
ENST00000645361.2:c.802C>A MANE Select ENSP00000496150.1:p.Pro268Thr
ENST00000359033.4:c.649C>A ENSP00000351927.4:p.Pro217Thr
ENST00000360124.9:c.469C>A ENSP00000353241.5:p.Pro157Thr
ENST00000360608.9:c.802C>A ENSP00000353820.5:p.Pro268Thr
ENST00000389970.7:c.736C>A ENSP00000374620.4:p.Pro246Thr
ENST00000488442.1:n.1526C>A
NM_000106.5:c.802C>A NP_000097.3:p.Pro268Thr
NM_001025161.2:c.649C>A NP_001020332.2:p.Pro217Thr
XM_011529966.1:c.802C>A XP_011528268.1:p.Pro268Thr
XM_011529967.1:c.802C>A XP_011528269.1:p.Pro268Thr
XM_011529968.1:c.802C>A XP_011528270.1:p.Pro268Thr
XM_011529969.1:c.658C>A XP_011528271.1:p.Pro220Thr
XM_011529970.1:c.649C>A XP_011528272.1:p.Pro217Thr
XM_011529971.1:c.658C>A XP_011528273.1:p.Pro220Thr
XM_011529972.1:c.802C>A XP_011528274.1:p.Pro268Thr
NM_000106.6:c.802C>A MANE Select NP_000097.3:p.Pro268Thr
NM_001025161.3:c.649C>A NP_001020332.2:p.Pro217Thr