Canonical Allele Identifier: CA411774158

Gene: CYP2D6

Linked Data

• gnomAD v4: 22-42128941-C-T
• COSMIC: COSM1416609 ; COSM1416610
• MyVariant Identifiers: chr22:g.42524943C>T (hg19) ; chr22:g.42128941C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42128941C>T , CM000684.2:g.42128941C>T	GRCh38
NC_000022.10:g.42524943C>T , CM000684.1:g.42524943C>T	GRCh37
NC_000022.9:g.40854887C>T	NCBI36
NG_008376.3:g.6051G>A
NG_008376.4:g.6870G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000360124.10:c.356G>A	ENSP00000353241.6:p.Arg119His
ENST00000645361.2:c.509G>A MANE Select	ENSP00000496150.1:p.Arg170His
ENST00000359033.4:c.356G>A	ENSP00000351927.4:p.Arg119His
ENST00000360124.9:c.176G>A	ENSP00000353241.5:p.Arg59His
ENST00000360608.9:c.509G>A	ENSP00000353820.5:p.Arg170His
ENST00000389970.7:c.443G>A	ENSP00000374620.4:p.Arg148His
ENST00000488442.1:n.1233G>A
NM_000106.5:c.509G>A	NP_000097.3:p.Arg170His
NM_001025161.2:c.356G>A	NP_001020332.2:p.Arg119His
XM_011529966.1:c.509G>A	XP_011528268.1:p.Arg170His
XM_011529967.1:c.509G>A	XP_011528269.1:p.Arg170His
XM_011529968.1:c.509G>A	XP_011528270.1:p.Arg170His
XM_011529969.1:c.365G>A	XP_011528271.1:p.Arg122His
XM_011529970.1:c.356G>A	XP_011528272.1:p.Arg119His
XM_011529971.1:c.365G>A	XP_011528273.1:p.Arg122His
XM_011529972.1:c.509G>A	XP_011528274.1:p.Arg170His
NM_000106.6:c.509G>A MANE Select	NP_000097.3:p.Arg170His
NM_001025161.3:c.356G>A	NP_001020332.2:p.Arg119His