Canonical Allele Identifier: CA324666186

Gene: CYP2D6

Linked Data

• dbSNP Id: rs953106263
• gnomAD v4: 22-42127850-T-G
• MyVariant Identifiers: chr22:g.42523852T>G (hg19) ; chr22:g.42127850T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42127850T>G , CM000684.2:g.42127850T>G	GRCh38
NC_000022.10:g.42523852T>G , CM000684.1:g.42523852T>G	GRCh37
NC_000022.9:g.40853796T>G	NCBI36
NG_008376.3:g.7142A>C
NG_008376.4:g.7961A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360124.10:c.775A>C	ENSP00000353241.6:n.775A>C
ENST00000645361.2:c.977A>C MANE Select	ENSP00000496150.1:p.Asp326Ala
ENST00000359033.4:c.824A>C	ENSP00000351927.4:p.Asp275Ala
ENST00000360124.9:c.595A>C	ENSP00000353241.5:n.595A>C
ENST00000360608.9:c.977A>C	ENSP00000353820.5:p.Asp326Ala
ENST00000389970.7:c.911A>C	ENSP00000374620.4:p.Asp304Ala
ENST00000488442.1:n.1701A>C
NM_000106.5:c.977A>C	NP_000097.3:p.Asp326Ala
NM_001025161.2:c.824A>C	NP_001020332.2:p.Asp275Ala
XM_011529966.1:c.977A>C	XP_011528268.1:p.Asp326Ala
XM_011529967.1:c.977A>C	XP_011528269.1:p.Asp326Ala
XM_011529968.1:c.977A>C	XP_011528270.1:p.Asp326Ala
XM_011529969.1:c.833A>C	XP_011528271.1:p.Asp278Ala
XM_011529970.1:c.824A>C	XP_011528272.1:p.Asp275Ala
XM_011529971.1:c.833A>C	XP_011528273.1:p.Asp278Ala
XM_011529972.1:c.844-216A>C	XP_011528274.1:n.844-216A>C
NM_000106.6:c.977A>C MANE Select	NP_000097.3:p.Asp326Ala
NM_001025161.3:c.824A>C	NP_001020332.2:p.Asp275Ala