Canonical Allele Identifier: CA411773949

Gene: CYP2D6

Linked Data

• dbSNP Id: rs2146936937
• gnomAD v4: 22-42128867-A-C
• MyVariant Identifiers: chr22:g.42524869A>C (hg19) ; chr22:g.42128867A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42128867A>C , CM000684.2:g.42128867A>C	GRCh38
NC_000022.10:g.42524869A>C , CM000684.1:g.42524869A>C	GRCh37
NC_000022.9:g.40854813A>C	NCBI36
NG_008376.3:g.6125T>G
NG_008376.4:g.6944T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000360124.10:c.430T>G	ENSP00000353241.6:p.Phe144Val
ENST00000645361.2:c.583T>G MANE Select	ENSP00000496150.1:p.Phe195Val
ENST00000359033.4:c.430T>G	ENSP00000351927.4:p.Phe144Val
ENST00000360124.9:c.250T>G	ENSP00000353241.5:p.Phe84Val
ENST00000360608.9:c.583T>G	ENSP00000353820.5:p.Phe195Val
ENST00000389970.7:c.517T>G	ENSP00000374620.4:p.Phe173Val
ENST00000488442.1:n.1307T>G
NM_000106.5:c.583T>G	NP_000097.3:p.Phe195Val
NM_001025161.2:c.430T>G	NP_001020332.2:p.Phe144Val
XM_011529966.1:c.583T>G	XP_011528268.1:p.Phe195Val
XM_011529967.1:c.583T>G	XP_011528269.1:p.Phe195Val
XM_011529968.1:c.583T>G	XP_011528270.1:p.Phe195Val
XM_011529969.1:c.439T>G	XP_011528271.1:p.Phe147Val
XM_011529970.1:c.430T>G	XP_011528272.1:p.Phe144Val
XM_011529971.1:c.439T>G	XP_011528273.1:p.Phe147Val
XM_011529972.1:c.583T>G	XP_011528274.1:p.Phe195Val
NM_000106.6:c.583T>G MANE Select	NP_000097.3:p.Phe195Val
NM_001025161.3:c.430T>G	NP_001020332.2:p.Phe144Val