Canonical Allele Identifier: CA411772596

Gene: CYP2D6

Linked Data

• gnomAD v4: 22-42127907-A-C
• MyVariant Identifiers: chr22:g.42523909A>C (hg19) ; chr22:g.42127907A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42127907A>C , CM000684.2:g.42127907A>C	GRCh38
NC_000022.10:g.42523909A>C , CM000684.1:g.42523909A>C	GRCh37
NC_000022.9:g.40853853A>C	NCBI36
NG_008376.3:g.7085T>G
NG_008376.4:g.7904T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.718T>G	ENSP00000353241.6:p.Trp240Gly
ENST00000645361.2:c.920T>G MANE Select	ENSP00000496150.1:p.Met307Arg
ENST00000359033.4:c.767T>G	ENSP00000351927.4:p.Met256Arg
ENST00000360124.9:c.538T>G	ENSP00000353241.5:p.Trp180Gly
ENST00000360608.9:c.920T>G	ENSP00000353820.5:p.Met307Arg
ENST00000389970.7:c.854T>G	ENSP00000374620.4:p.Met285Arg
ENST00000488442.1:n.1644T>G
NM_000106.5:c.920T>G	NP_000097.3:p.Met307Arg
NM_001025161.2:c.767T>G	NP_001020332.2:p.Met256Arg
XM_011529966.1:c.920T>G	XP_011528268.1:p.Met307Arg
XM_011529967.1:c.920T>G	XP_011528269.1:p.Met307Arg
XM_011529968.1:c.920T>G	XP_011528270.1:p.Met307Arg
XM_011529969.1:c.776T>G	XP_011528271.1:p.Met259Arg
XM_011529970.1:c.767T>G	XP_011528272.1:p.Met256Arg
XM_011529971.1:c.776T>G	XP_011528273.1:p.Met259Arg
XM_011529972.1:c.843+267T>G	XP_011528274.1:n.843+267T>G
NM_000106.6:c.920T>G MANE Select	NP_000097.3:p.Met307Arg
NM_001025161.3:c.767T>G	NP_001020332.2:p.Met256Arg