Canonical Allele Identifier: CA411773017

Gene: CYP2D6

Linked Data

• dbSNP Id: rs1135828
• gnomAD v3: 22-42128181-A-C
• gnomAD v4: 22-42128181-A-C
• MyVariant Identifiers: chr22:g.42524183A>C (hg19) ; chr22:g.42128181A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42128181A>C , CM000684.2:g.42128181A>C	GRCh38
NC_000022.10:g.42524183A>C , CM000684.1:g.42524183A>C	GRCh37
NC_000022.9:g.40854127A>C	NCBI36
NG_008376.3:g.6811T>G
NG_008376.4:g.7630T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.683T>G	ENSP00000353241.6:p.Met228Arg
ENST00000645361.2:c.836T>G MANE Select	ENSP00000496150.1:p.Met279Arg
ENST00000359033.4:c.683T>G	ENSP00000351927.4:p.Met228Arg
ENST00000360124.9:c.503T>G	ENSP00000353241.5:p.Met168Arg
ENST00000360608.9:c.836T>G	ENSP00000353820.5:p.Met279Arg
ENST00000389970.7:c.770T>G	ENSP00000374620.4:p.Met257Arg
ENST00000488442.1:n.1560T>G
NM_000106.5:c.836T>G	NP_000097.3:p.Met279Arg
NM_001025161.2:c.683T>G	NP_001020332.2:p.Met228Arg
XM_011529966.1:c.836T>G	XP_011528268.1:p.Met279Arg
XM_011529967.1:c.836T>G	XP_011528269.1:p.Met279Arg
XM_011529968.1:c.836T>G	XP_011528270.1:p.Met279Arg
XM_011529969.1:c.692T>G	XP_011528271.1:p.Met231Arg
XM_011529970.1:c.683T>G	XP_011528272.1:p.Met228Arg
XM_011529971.1:c.692T>G	XP_011528273.1:p.Met231Arg
XM_011529972.1:c.836T>G	XP_011528274.1:p.Met279Arg
NM_000106.6:c.836T>G MANE Select	NP_000097.3:p.Met279Arg
NM_001025161.3:c.683T>G	NP_001020332.2:p.Met228Arg