Canonical Allele Identifier: CA411773370

Gene: CYP2D6

Linked Data

• gnomAD v4: 22-42128260-C-T
• MyVariant Identifiers: chr22:g.42524262C>T (hg19) ; chr22:g.42128260C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42128260C>T , CM000684.2:g.42128260C>T	GRCh38
NC_000022.10:g.42524262C>T , CM000684.1:g.42524262C>T	GRCh37
NC_000022.9:g.40854206C>T	NCBI36
NG_008376.3:g.6732G>A
NG_008376.4:g.7551G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000360124.10:c.604G>A	ENSP00000353241.6:p.Glu202Lys
ENST00000645361.2:c.757G>A MANE Select	ENSP00000496150.1:p.Glu253Lys
ENST00000359033.4:c.604G>A	ENSP00000351927.4:p.Glu202Lys
ENST00000360124.9:c.424G>A	ENSP00000353241.5:p.Glu142Lys
ENST00000360608.9:c.757G>A	ENSP00000353820.5:p.Glu253Lys
ENST00000389970.7:c.691G>A	ENSP00000374620.4:p.Glu231Lys
ENST00000488442.1:n.1481G>A
NM_000106.5:c.757G>A	NP_000097.3:p.Glu253Lys
NM_001025161.2:c.604G>A	NP_001020332.2:p.Glu202Lys
XM_011529966.1:c.757G>A	XP_011528268.1:p.Glu253Lys
XM_011529967.1:c.757G>A	XP_011528269.1:p.Glu253Lys
XM_011529968.1:c.757G>A	XP_011528270.1:p.Glu253Lys
XM_011529969.1:c.613G>A	XP_011528271.1:p.Glu205Lys
XM_011529970.1:c.604G>A	XP_011528272.1:p.Glu202Lys
XM_011529971.1:c.613G>A	XP_011528273.1:p.Glu205Lys
XM_011529972.1:c.757G>A	XP_011528274.1:p.Glu253Lys
NM_000106.6:c.757G>A MANE Select	NP_000097.3:p.Glu253Lys
NM_001025161.3:c.604G>A	NP_001020332.2:p.Glu202Lys