Canonical Allele Identifier: CA324665758

Gene: CYP2D6

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42127619T>G , CM000684.2:g.42127619T>G	GRCh38
NC_000022.10:g.42523621T>G , CM000684.1:g.42523621T>G	GRCh37
NC_000022.9:g.40853565T>G	NCBI36
NG_008376.3:g.7373A>C
NG_008376.4:g.8192A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.799A>C	ENSP00000353241.6:n.799A>C
ENST00000645361.2:c.1001A>C MANE Select	ENSP00000496150.1:p.Glu334Ala
ENST00000359033.4:c.848A>C	ENSP00000351927.4:p.Glu283Ala
ENST00000360124.9:c.619A>C	ENSP00000353241.5:n.619A>C
ENST00000360608.9:c.1001A>C	ENSP00000353820.5:p.Glu334Ala
ENST00000389970.7:c.992A>C	ENSP00000374620.4:p.Glu331Ala
ENST00000488442.1:n.1725A>C
NM_000106.5:c.1001A>C	NP_000097.3:p.Glu334Ala
NM_001025161.2:c.848A>C	NP_001020332.2:p.Glu283Ala
XM_011529966.1:c.1001A>C	XP_011528268.1:p.Glu334Ala
XM_011529967.1:c.1001A>C	XP_011528269.1:p.Glu334Ala
XM_011529968.1:c.1001A>C	XP_011528270.1:p.Glu334Ala
XM_011529969.1:c.857A>C	XP_011528271.1:p.Glu286Ala
XM_011529970.1:c.848A>C	XP_011528272.1:p.Glu283Ala
XM_011529971.1:c.857A>C	XP_011528273.1:p.Glu286Ala
XM_011529972.1:c.859A>C	XP_011528274.1:p.Arg287=
NM_000106.6:c.1001A>C MANE Select	NP_000097.3:p.Glu334Ala
NM_001025161.3:c.848A>C	NP_001020332.2:p.Glu283Ala