Canonical Allele Identifier: CA411772850

Gene: CYP2D6

Linked Data

• COSMIC: COSM3842800 ; COSM3842801
• MyVariant Identifiers: chr22:g.42523970C>T (hg19) ; chr22:g.42127968C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42127968C>T , CM000684.2:g.42127968C>T	GRCh38
NC_000022.10:g.42523970C>T , CM000684.1:g.42523970C>T	GRCh37
NC_000022.9:g.40853914C>T	NCBI36
NG_008376.3:g.7024G>A
NG_008376.4:g.7843G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.691-34G>A	ENSP00000353241.6:n.691-34G>A
ENST00000645361.2:c.859G>A MANE Select	ENSP00000496150.1:p.Glu287Lys
ENST00000359033.4:c.706G>A	ENSP00000351927.4:p.Glu236Lys
ENST00000360124.9:c.511-34G>A	ENSP00000353241.5:n.511-34G>A
ENST00000360608.9:c.859G>A	ENSP00000353820.5:p.Glu287Lys
ENST00000389970.7:c.793G>A	ENSP00000374620.4:p.Glu265Lys
ENST00000488442.1:n.1583G>A
NM_000106.5:c.859G>A	NP_000097.3:p.Glu287Lys
NM_001025161.2:c.706G>A	NP_001020332.2:p.Glu236Lys
XM_011529966.1:c.859G>A	XP_011528268.1:p.Glu287Lys
XM_011529967.1:c.859G>A	XP_011528269.1:p.Glu287Lys
XM_011529968.1:c.859G>A	XP_011528270.1:p.Glu287Lys
XM_011529969.1:c.715G>A	XP_011528271.1:p.Glu239Lys
XM_011529970.1:c.706G>A	XP_011528272.1:p.Glu236Lys
XM_011529971.1:c.715G>A	XP_011528273.1:p.Glu239Lys
XM_011529972.1:c.843+206G>A	XP_011528274.1:n.843+206G>A
NM_000106.6:c.859G>A MANE Select	NP_000097.3:p.Glu287Lys
NM_001025161.3:c.706G>A	NP_001020332.2:p.Glu236Lys