Canonical Allele Identifier: CA411773055

Gene: CYP2D6

Linked Data

• dbSNP Id: rs1931268543
• gnomAD v3: 22-42128190-A-C
• gnomAD v4: 22-42128190-A-C
• MyVariant Identifiers: chr22:g.42524192A>C (hg19) ; chr22:g.42128190A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42128190A>C , CM000684.2:g.42128190A>C	GRCh38
NC_000022.10:g.42524192A>C , CM000684.1:g.42524192A>C	GRCh37
NC_000022.9:g.40854136A>C	NCBI36
NG_008376.3:g.6802T>G
NG_008376.4:g.7621T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.674T>G	ENSP00000353241.6:p.Leu225Arg
ENST00000645361.2:c.827T>G MANE Select	ENSP00000496150.1:p.Leu276Arg
ENST00000359033.4:c.674T>G	ENSP00000351927.4:p.Leu225Arg
ENST00000360124.9:c.494T>G	ENSP00000353241.5:p.Leu165Arg
ENST00000360608.9:c.827T>G	ENSP00000353820.5:p.Leu276Arg
ENST00000389970.7:c.761T>G	ENSP00000374620.4:p.Leu254Arg
ENST00000488442.1:n.1551T>G
NM_000106.5:c.827T>G	NP_000097.3:p.Leu276Arg
NM_001025161.2:c.674T>G	NP_001020332.2:p.Leu225Arg
XM_011529966.1:c.827T>G	XP_011528268.1:p.Leu276Arg
XM_011529967.1:c.827T>G	XP_011528269.1:p.Leu276Arg
XM_011529968.1:c.827T>G	XP_011528270.1:p.Leu276Arg
XM_011529969.1:c.683T>G	XP_011528271.1:p.Leu228Arg
XM_011529970.1:c.674T>G	XP_011528272.1:p.Leu225Arg
XM_011529971.1:c.683T>G	XP_011528273.1:p.Leu228Arg
XM_011529972.1:c.827T>G	XP_011528274.1:p.Leu276Arg
NM_000106.6:c.827T>G MANE Select	NP_000097.3:p.Leu276Arg
NM_001025161.3:c.674T>G	NP_001020332.2:p.Leu225Arg