Canonical Allele Identifier: CA514800379

Gene: CYP2D6

Linked Data

• dbSNP Id: rs747397644
• gnomAD v4: 22-42127861-G-T
• MyVariant Identifiers: chr22:g.42523863G>T (hg19) ; chr22:g.42127861G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42127861G>T , CM000684.2:g.42127861G>T	GRCh38
NC_000022.10:g.42523863G>T , CM000684.1:g.42523863G>T	GRCh37
NC_000022.9:g.40853807G>T	NCBI36
NG_008376.3:g.7131C>A
NG_008376.4:g.7950C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000360124.10:c.764C>A	ENSP00000353241.6:n.764C>A
ENST00000645361.2:c.966C>A MANE Select	ENSP00000496150.1:p.Ile322=
ENST00000359033.4:c.813C>A	ENSP00000351927.4:p.Ile271=
ENST00000360124.9:c.584C>A	ENSP00000353241.5:n.584C>A
ENST00000360608.9:c.966C>A	ENSP00000353820.5:p.Ile322=
ENST00000389970.7:c.900C>A	ENSP00000374620.4:p.Ile300=
ENST00000488442.1:n.1690C>A
NM_000106.5:c.966C>A	NP_000097.3:p.Ile322=
NM_001025161.2:c.813C>A	NP_001020332.2:p.Ile271=
XM_011529966.1:c.966C>A	XP_011528268.1:p.Ile322=
XM_011529967.1:c.966C>A	XP_011528269.1:p.Ile322=
XM_011529968.1:c.966C>A	XP_011528270.1:p.Ile322=
XM_011529969.1:c.822C>A	XP_011528271.1:p.Ile274=
XM_011529970.1:c.813C>A	XP_011528272.1:p.Ile271=
XM_011529971.1:c.822C>A	XP_011528273.1:p.Ile274=
XM_011529972.1:c.844-227C>A	XP_011528274.1:n.844-227C>A
NM_000106.6:c.966C>A MANE Select	NP_000097.3:p.Ile322=
NM_001025161.3:c.813C>A	NP_001020332.2:p.Ile271=