Canonical Allele Identifier: CA514699595

Gene: CYP2D6

Linked Data

• dbSNP Id: rs1394517829
• gnomAD v2: 22-42525177-C-A
• MyVariant Identifiers: chr22:g.42525177C>A (hg19) ; chr22:g.42129175C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42129175C>A , CM000684.2:g.42129175C>A	GRCh38
NC_000022.10:g.42525177C>A , CM000684.1:g.42525177C>A	GRCh37
NC_000022.9:g.40855121C>A	NCBI36
NG_008376.3:g.5817G>T
NG_008376.4:g.6636G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.353-231G>T	ENSP00000353241.6:n.353-231G>T
ENST00000645361.2:c.363G>T MANE Select	ENSP00000496150.1:p.Leu121=
ENST00000359033.4:c.353-231G>T	ENSP00000351927.4:n.353-231G>T
ENST00000360124.9:c.173-231G>T	ENSP00000353241.5:n.173-231G>T
ENST00000360608.9:c.363G>T	ENSP00000353820.5:p.Leu121=
ENST00000389970.7:c.297G>T	ENSP00000374620.4:p.Leu99=
ENST00000488442.1:n.1087G>T
NM_000106.5:c.363G>T	NP_000097.3:p.Leu121=
NM_001025161.2:c.353-231G>T	NP_001020332.2:n.353-231G>T
XM_011529966.1:c.363G>T	XP_011528268.1:p.Leu121=
XM_011529967.1:c.363G>T	XP_011528269.1:p.Leu121=
XM_011529968.1:c.363G>T	XP_011528270.1:p.Leu121=
XM_011529969.1:c.220G>T	XP_011528271.1:p.Gly74Cys
XM_011529970.1:c.353-231G>T	XP_011528272.1:n.353-231G>T
XM_011529971.1:c.220G>T	XP_011528273.1:p.Gly74Cys
XM_011529972.1:c.363G>T	XP_011528274.1:p.Leu121=
NM_000106.6:c.363G>T MANE Select	NP_000097.3:p.Leu121=
NM_001025161.3:c.353-231G>T	NP_001020332.2:n.353-231G>T