Canonical Allele Identifier: CA411769847

Gene: CYP2D6

Linked Data

• ClinVar Variation Id: 829711
• ClinVar RCV Id: RCV001029640
• dbSNP Id: rs1135838
• MyVariant Identifiers: chr22:g.42522629A>G (hg19) ; chr22:g.42126627A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42126627A>G , CM000684.2:g.42126627A>G	GRCh38
NC_000022.10:g.42522629A>G , CM000684.1:g.42522629A>G	GRCh37
NC_000022.9:g.40852573A>G	NCBI36
NG_008376.3:g.8365T>C
NG_008376.4:g.9184T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360124.10:c.1239T>C	ENSP00000353241.6:n.1239T>C
ENST00000645361.2:c.1441T>C MANE Select	ENSP00000496150.1:p.Phe481Leu
ENST00000359033.4:c.1288T>C	ENSP00000351927.4:p.Phe430Leu
ENST00000360124.9:c.1059T>C	ENSP00000353241.5:n.1059T>C
ENST00000360608.9:c.1441T>C	ENSP00000353820.5:p.Phe481Leu
ENST00000389970.7:c.1432T>C	ENSP00000374620.4:p.Phe478Leu
ENST00000488442.1:n.2165T>C
NM_000106.5:c.1441T>C	NP_000097.3:p.Phe481Leu
NM_001025161.2:c.1288T>C	NP_001020332.2:p.Phe430Leu
XM_011529966.1:c.1441T>C	XP_011528268.1:p.Phe481Leu
XM_011529967.1:c.1441T>C	XP_011528269.1:p.Phe481Leu
XM_011529968.1:c.1441T>C	XP_011528270.1:p.Phe481Leu
XM_011529969.1:c.1297T>C	XP_011528271.1:p.Phe433Leu
XM_011529970.1:c.1288T>C	XP_011528272.1:p.Phe430Leu
XM_011529971.1:c.1297T>C	XP_011528273.1:p.Phe433Leu
NM_000106.6:c.1441T>C MANE Select	NP_000097.3:p.Phe481Leu
NM_001025161.3:c.1288T>C	NP_001020332.2:p.Phe430Leu