Canonical Allele Identifier: CA411773938

Gene: CYP2D6

Linked Data

• dbSNP Id: rs1931470497
• gnomAD v3: 22-42128861-A-G
• gnomAD v4: 22-42128861-A-G
• MyVariant Identifiers: chr22:g.42524863A>G (hg19) ; chr22:g.42128861A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42128861A>G , CM000684.2:g.42128861A>G	GRCh38
NC_000022.10:g.42524863A>G , CM000684.1:g.42524863A>G	GRCh37
NC_000022.9:g.40854807A>G	NCBI36
NG_008376.3:g.6131T>C
NG_008376.4:g.6950T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360124.10:c.436T>C	ENSP00000353241.6:p.Tyr146His
ENST00000645361.2:c.589T>C MANE Select	ENSP00000496150.1:p.Tyr197His
ENST00000359033.4:c.436T>C	ENSP00000351927.4:p.Tyr146His
ENST00000360124.9:c.256T>C	ENSP00000353241.5:p.Tyr86His
ENST00000360608.9:c.589T>C	ENSP00000353820.5:p.Tyr197His
ENST00000389970.7:c.523T>C	ENSP00000374620.4:p.Tyr175His
ENST00000488442.1:n.1313T>C
NM_000106.5:c.589T>C	NP_000097.3:p.Tyr197His
NM_001025161.2:c.436T>C	NP_001020332.2:p.Tyr146His
XM_011529966.1:c.589T>C	XP_011528268.1:p.Tyr197His
XM_011529967.1:c.589T>C	XP_011528269.1:p.Tyr197His
XM_011529968.1:c.589T>C	XP_011528270.1:p.Tyr197His
XM_011529969.1:c.445T>C	XP_011528271.1:p.Tyr149His
XM_011529970.1:c.436T>C	XP_011528272.1:p.Tyr146His
XM_011529971.1:c.445T>C	XP_011528273.1:p.Tyr149His
XM_011529972.1:c.589T>C	XP_011528274.1:p.Tyr197His
NM_000106.6:c.589T>C MANE Select	NP_000097.3:p.Tyr197His
NM_001025161.3:c.436T>C	NP_001020332.2:p.Tyr146His