Canonical Allele Identifier: CA324672334

Gene: CYP2D6

Linked Data

• dbSNP Id: rs375536796
• gnomAD v2: 22-42524926-C-T
• gnomAD v4: 22-42128924-C-T
• COSMIC: COSM6381225 ; COSM6381226
• MyVariant Identifiers: chr22:g.42524926C>T (hg19) ; chr22:g.42128924C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42128924C>T , CM000684.2:g.42128924C>T	GRCh38
NC_000022.10:g.42524926C>T , CM000684.1:g.42524926C>T	GRCh37
NC_000022.9:g.40854870C>T	NCBI36
NG_008376.3:g.6068G>A
NG_008376.4:g.6887G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.373G>A	ENSP00000353241.6:p.Gly125Ser
ENST00000645361.2:c.526G>A MANE Select	ENSP00000496150.1:p.Gly176Ser
ENST00000359033.4:c.373G>A	ENSP00000351927.4:p.Gly125Ser
ENST00000360124.9:c.193G>A	ENSP00000353241.5:p.Gly65Ser
ENST00000360608.9:c.526G>A	ENSP00000353820.5:p.Gly176Ser
ENST00000389970.7:c.460G>A	ENSP00000374620.4:p.Gly154Ser
ENST00000488442.1:n.1250G>A
NM_000106.5:c.526G>A	NP_000097.3:p.Gly176Ser
NM_001025161.2:c.373G>A	NP_001020332.2:p.Gly125Ser
XM_011529966.1:c.526G>A	XP_011528268.1:p.Gly176Ser
XM_011529967.1:c.526G>A	XP_011528269.1:p.Gly176Ser
XM_011529968.1:c.526G>A	XP_011528270.1:p.Gly176Ser
XM_011529969.1:c.382G>A	XP_011528271.1:p.Gly128Ser
XM_011529970.1:c.373G>A	XP_011528272.1:p.Gly125Ser
XM_011529971.1:c.382G>A	XP_011528273.1:p.Gly128Ser
XM_011529972.1:c.526G>A	XP_011528274.1:p.Gly176Ser
NM_000106.6:c.526G>A MANE Select	NP_000097.3:p.Gly176Ser
NM_001025161.3:c.373G>A	NP_001020332.2:p.Gly125Ser