Canonical Allele Identifier: CA411772665

Gene: CYP2D6

Linked Data

• dbSNP Id: rs2146933048
• MyVariant Identifiers: chr22:g.42523927T>A (hg19) ; chr22:g.42127925T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42127925T>A , CM000684.2:g.42127925T>A	GRCh38
NC_000022.10:g.42523927T>A , CM000684.1:g.42523927T>A	GRCh37
NC_000022.9:g.40853871T>A	NCBI36
NG_008376.3:g.7067A>T
NG_008376.4:g.7886A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.700A>T	ENSP00000353241.6:p.Thr234Ser
ENST00000645361.2:c.902A>T MANE Select	ENSP00000496150.1:p.Asp301Val
ENST00000359033.4:c.749A>T	ENSP00000351927.4:p.Asp250Val
ENST00000360124.9:c.520A>T	ENSP00000353241.5:p.Thr174Ser
ENST00000360608.9:c.902A>T	ENSP00000353820.5:p.Asp301Val
ENST00000389970.7:c.836A>T	ENSP00000374620.4:p.Asp279Val
ENST00000488442.1:n.1626A>T
NM_000106.5:c.902A>T	NP_000097.3:p.Asp301Val
NM_001025161.2:c.749A>T	NP_001020332.2:p.Asp250Val
XM_011529966.1:c.902A>T	XP_011528268.1:p.Asp301Val
XM_011529967.1:c.902A>T	XP_011528269.1:p.Asp301Val
XM_011529968.1:c.902A>T	XP_011528270.1:p.Asp301Val
XM_011529969.1:c.758A>T	XP_011528271.1:p.Asp253Val
XM_011529970.1:c.749A>T	XP_011528272.1:p.Asp250Val
XM_011529971.1:c.758A>T	XP_011528273.1:p.Asp253Val
XM_011529972.1:c.843+249A>T	XP_011528274.1:n.843+249A>T
NM_000106.6:c.902A>T MANE Select	NP_000097.3:p.Asp301Val
NM_001025161.3:c.749A>T	NP_001020332.2:p.Asp250Val