Canonical Allele Identifier: CA514800456

Gene: CYP2D6

Linked Data

• dbSNP Id: rs1366781093
• gnomAD v2: 22-42523929-A-G
• gnomAD v4: 22-42127927-A-G
• MyVariant Identifiers: chr22:g.42523929A>G (hg19) ; chr22:g.42127927A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42127927A>G , CM000684.2:g.42127927A>G	GRCh38
NC_000022.10:g.42523929A>G , CM000684.1:g.42523929A>G	GRCh37
NC_000022.9:g.40853873A>G	NCBI36
NG_008376.3:g.7065T>C
NG_008376.4:g.7884T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.698T>C	ENSP00000353241.6:p.Leu233Pro
ENST00000645361.2:c.900T>C MANE Select	ENSP00000496150.1:p.Ala300=
ENST00000359033.4:c.747T>C	ENSP00000351927.4:p.Ala249=
ENST00000360124.9:c.518T>C	ENSP00000353241.5:p.Leu173Pro
ENST00000360608.9:c.900T>C	ENSP00000353820.5:p.Ala300=
ENST00000389970.7:c.834T>C	ENSP00000374620.4:p.Ala278=
ENST00000488442.1:n.1624T>C
NM_000106.5:c.900T>C	NP_000097.3:p.Ala300=
NM_001025161.2:c.747T>C	NP_001020332.2:p.Ala249=
XM_011529966.1:c.900T>C	XP_011528268.1:p.Ala300=
XM_011529967.1:c.900T>C	XP_011528269.1:p.Ala300=
XM_011529968.1:c.900T>C	XP_011528270.1:p.Ala300=
XM_011529969.1:c.756T>C	XP_011528271.1:p.Ala252=
XM_011529970.1:c.747T>C	XP_011528272.1:p.Ala249=
XM_011529971.1:c.756T>C	XP_011528273.1:p.Ala252=
XM_011529972.1:c.843+247T>C	XP_011528274.1:n.843+247T>C
NM_000106.6:c.900T>C MANE Select	NP_000097.3:p.Ala300=
NM_001025161.3:c.747T>C	NP_001020332.2:p.Ala249=