Canonical Allele Identifier: CA514800451

Gene: CYP2D6

Linked Data

• gnomAD v4: 22-42127924-G-A
• MyVariant Identifiers: chr22:g.42523926G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42127924G>A , CM000684.2:g.42127924G>A	GRCh38
NC_000022.10:g.42523926G>A , CM000684.1:g.42523926G>A	GRCh37
NC_000022.9:g.40853870G>A	NCBI36
NG_008376.3:g.7068C>T
NG_008376.4:g.7887C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.701C>T	ENSP00000353241.6:p.Thr234Ile
ENST00000645361.2:c.903C>T MANE Select	ENSP00000496150.1:p.Asp301=
ENST00000359033.4:c.750C>T	ENSP00000351927.4:p.Asp250=
ENST00000360124.9:c.521C>T	ENSP00000353241.5:p.Thr174Ile
ENST00000360608.9:c.903C>T	ENSP00000353820.5:p.Asp301=
ENST00000389970.7:c.837C>T	ENSP00000374620.4:p.Asp279=
ENST00000488442.1:n.1627C>T
NM_000106.5:c.903C>T	NP_000097.3:p.Asp301=
NM_001025161.2:c.750C>T	NP_001020332.2:p.Asp250=
XM_011529966.1:c.903C>T	XP_011528268.1:p.Asp301=
XM_011529967.1:c.903C>T	XP_011528269.1:p.Asp301=
XM_011529968.1:c.903C>T	XP_011528270.1:p.Asp301=
XM_011529969.1:c.759C>T	XP_011528271.1:p.Asp253=
XM_011529970.1:c.750C>T	XP_011528272.1:p.Asp250=
XM_011529971.1:c.759C>T	XP_011528273.1:p.Asp253=
XM_011529972.1:c.843+250C>T	XP_011528274.1:n.843+250C>T
NM_000106.6:c.903C>T MANE Select	NP_000097.3:p.Asp301=
NM_001025161.3:c.750C>T	NP_001020332.2:p.Asp250=