Canonical Allele Identifier: CA514697099

Gene: CYP2D6

Linked Data

• dbSNP Id: rs2146937074
• COSMIC: COSM6162115 ; COSM6162116
• MyVariant Identifiers: chr22:g.42524885G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42128883G>A , CM000684.2:g.42128883G>A	GRCh38
NC_000022.10:g.42524885G>A , CM000684.1:g.42524885G>A	GRCh37
NC_000022.9:g.40854829G>A	NCBI36
NG_008376.3:g.6109C>T
NG_008376.4:g.6928C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000360124.10:c.414C>T	ENSP00000353241.6:p.Leu138=
ENST00000645361.2:c.567C>T MANE Select	ENSP00000496150.1:p.Leu189=
ENST00000359033.4:c.414C>T	ENSP00000351927.4:p.Leu138=
ENST00000360124.9:c.234C>T	ENSP00000353241.5:p.Leu78=
ENST00000360608.9:c.567C>T	ENSP00000353820.5:p.Leu189=
ENST00000389970.7:c.501C>T	ENSP00000374620.4:p.Leu167=
ENST00000488442.1:n.1291C>T
NM_000106.5:c.567C>T	NP_000097.3:p.Leu189=
NM_001025161.2:c.414C>T	NP_001020332.2:p.Leu138=
XM_011529966.1:c.567C>T	XP_011528268.1:p.Leu189=
XM_011529967.1:c.567C>T	XP_011528269.1:p.Leu189=
XM_011529968.1:c.567C>T	XP_011528270.1:p.Leu189=
XM_011529969.1:c.423C>T	XP_011528271.1:p.Leu141=
XM_011529970.1:c.414C>T	XP_011528272.1:p.Leu138=
XM_011529971.1:c.423C>T	XP_011528273.1:p.Leu141=
XM_011529972.1:c.567C>T	XP_011528274.1:p.Leu189=
NM_000106.6:c.567C>T MANE Select	NP_000097.3:p.Leu189=
NM_001025161.3:c.414C>T	NP_001020332.2:p.Leu138=