Canonical Allele Identifier: CA10264785

Gene: CYP2D6

Linked Data

• dbSNP Id: rs775065145
• ExAC: 22:42523936 A / G
• gnomAD v2: 22-42523936-A-G
• gnomAD v4: 22-42127934-A-G
• MyVariant Identifiers: chr22:g.42523936A>G (hg19) ; chr22:g.42127934A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42127934A>G , CM000684.2:g.42127934A>G	GRCh38
NC_000022.10:g.42523936A>G , CM000684.1:g.42523936A>G	GRCh37
NC_000022.9:g.40853880A>G	NCBI36
NG_008376.3:g.7058T>C
NG_008376.4:g.7877T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.691T>C	ENSP00000353241.6:p.Trp231Arg
ENST00000645361.2:c.893T>C MANE Select	ENSP00000496150.1:p.Val298Ala
ENST00000359033.4:c.740T>C	ENSP00000351927.4:p.Val247Ala
ENST00000360124.9:c.511T>C	ENSP00000353241.5:p.Trp171Arg
ENST00000360608.9:c.893T>C	ENSP00000353820.5:p.Val298Ala
ENST00000389970.7:c.827T>C	ENSP00000374620.4:p.Val276Ala
ENST00000488442.1:n.1617T>C
NM_000106.5:c.893T>C	NP_000097.3:p.Val298Ala
NM_001025161.2:c.740T>C	NP_001020332.2:p.Val247Ala
XM_011529966.1:c.893T>C	XP_011528268.1:p.Val298Ala
XM_011529967.1:c.893T>C	XP_011528269.1:p.Val298Ala
XM_011529968.1:c.893T>C	XP_011528270.1:p.Val298Ala
XM_011529969.1:c.749T>C	XP_011528271.1:p.Val250Ala
XM_011529970.1:c.740T>C	XP_011528272.1:p.Val247Ala
XM_011529971.1:c.749T>C	XP_011528273.1:p.Val250Ala
XM_011529972.1:c.843+240T>C	XP_011528274.1:n.843+240T>C
NM_000106.6:c.893T>C MANE Select	NP_000097.3:p.Val298Ala
NM_001025161.3:c.740T>C	NP_001020332.2:p.Val247Ala