Canonical Allele Identifier: CA324665683

Gene: CYP2D6

Linked Data

• dbSNP Id: rs267608295
• gnomAD v4: 22-42127593-G-C
• MyVariant Identifiers: chr22:g.42523595G>C (hg19) ; chr22:g.42127593G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42127593G>C , CM000684.2:g.42127593G>C	GRCh38
NC_000022.10:g.42523595G>C , CM000684.1:g.42523595G>C	GRCh37
NC_000022.9:g.40853539G>C	NCBI36
NG_008376.3:g.7399C>G
NG_008376.4:g.8218C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.825C>G	ENSP00000353241.6:n.825C>G
ENST00000645361.2:c.1027C>G MANE Select	ENSP00000496150.1:p.Arg343Gly
ENST00000359033.4:c.874C>G	ENSP00000351927.4:p.Arg292Gly
ENST00000360124.9:c.645C>G	ENSP00000353241.5:n.645C>G
ENST00000360608.9:c.1027C>G	ENSP00000353820.5:p.Arg343Gly
ENST00000389970.7:c.1018C>G	ENSP00000374620.4:p.Arg340Gly
ENST00000488442.1:n.1751C>G
NM_000106.5:c.1027C>G	NP_000097.3:p.Arg343Gly
NM_001025161.2:c.874C>G	NP_001020332.2:p.Arg292Gly
XM_011529966.1:c.1027C>G	XP_011528268.1:p.Arg343Gly
XM_011529967.1:c.1027C>G	XP_011528269.1:p.Arg343Gly
XM_011529968.1:c.1027C>G	XP_011528270.1:p.Arg343Gly
XM_011529969.1:c.883C>G	XP_011528271.1:p.Arg295Gly
XM_011529970.1:c.874C>G	XP_011528272.1:p.Arg292Gly
XM_011529971.1:c.883C>G	XP_011528273.1:p.Arg295Gly
XM_011529972.1:c.*12C>G	XP_011528274.1:n.*12C>G
NM_000106.6:c.1027C>G MANE Select	NP_000097.3:p.Arg343Gly
NM_001025161.3:c.874C>G	NP_001020332.2:p.Arg292Gly