Canonical Allele Identifier: CA411772842

Gene: CYP2D6

Linked Data

• dbSNP Id: rs1406642817
• gnomAD v2: 22-42523967-T-G
• gnomAD v4: 22-42127965-T-G
• MyVariant Identifiers: chr22:g.42523967T>G (hg19) ; chr22:g.42127965T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42127965T>G , CM000684.2:g.42127965T>G	GRCh38
NC_000022.10:g.42523967T>G , CM000684.1:g.42523967T>G	GRCh37
NC_000022.9:g.40853911T>G	NCBI36
NG_008376.3:g.7027A>C
NG_008376.4:g.7846A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360124.10:c.691-31A>C	ENSP00000353241.6:n.691-31A>C
ENST00000645361.2:c.862A>C MANE Select	ENSP00000496150.1:p.Ser288Arg
ENST00000359033.4:c.709A>C	ENSP00000351927.4:p.Ser237Arg
ENST00000360124.9:c.511-31A>C	ENSP00000353241.5:n.511-31A>C
ENST00000360608.9:c.862A>C	ENSP00000353820.5:p.Ser288Arg
ENST00000389970.7:c.796A>C	ENSP00000374620.4:p.Ser266Arg
ENST00000488442.1:n.1586A>C
NM_000106.5:c.862A>C	NP_000097.3:p.Ser288Arg
NM_001025161.2:c.709A>C	NP_001020332.2:p.Ser237Arg
XM_011529966.1:c.862A>C	XP_011528268.1:p.Ser288Arg
XM_011529967.1:c.862A>C	XP_011528269.1:p.Ser288Arg
XM_011529968.1:c.862A>C	XP_011528270.1:p.Ser288Arg
XM_011529969.1:c.718A>C	XP_011528271.1:p.Ser240Arg
XM_011529970.1:c.709A>C	XP_011528272.1:p.Ser237Arg
XM_011529971.1:c.718A>C	XP_011528273.1:p.Ser240Arg
XM_011529972.1:c.843+209A>C	XP_011528274.1:n.843+209A>C
NM_000106.6:c.862A>C MANE Select	NP_000097.3:p.Ser288Arg
NM_001025161.3:c.709A>C	NP_001020332.2:p.Ser237Arg