Canonical Allele Identifier: CA514800418

Gene: CYP2D6

Linked Data

• gnomAD v4: 22-42127897-G-A
• MyVariant Identifiers: chr22:g.42523899G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42127897G>A , CM000684.2:g.42127897G>A	GRCh38
NC_000022.10:g.42523899G>A , CM000684.1:g.42523899G>A	GRCh37
NC_000022.9:g.40853843G>A	NCBI36
NG_008376.3:g.7095C>T
NG_008376.4:g.7914C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.728C>T	ENSP00000353241.6:n.728C>T
ENST00000645361.2:c.930C>T MANE Select	ENSP00000496150.1:p.Thr310=
ENST00000359033.4:c.777C>T	ENSP00000351927.4:p.Thr259=
ENST00000360124.9:c.548C>T	ENSP00000353241.5:n.548C>T
ENST00000360608.9:c.930C>T	ENSP00000353820.5:p.Thr310=
ENST00000389970.7:c.864C>T	ENSP00000374620.4:p.Thr288=
ENST00000488442.1:n.1654C>T
NM_000106.5:c.930C>T	NP_000097.3:p.Thr310=
NM_001025161.2:c.777C>T	NP_001020332.2:p.Thr259=
XM_011529966.1:c.930C>T	XP_011528268.1:p.Thr310=
XM_011529967.1:c.930C>T	XP_011528269.1:p.Thr310=
XM_011529968.1:c.930C>T	XP_011528270.1:p.Thr310=
XM_011529969.1:c.786C>T	XP_011528271.1:p.Thr262=
XM_011529970.1:c.777C>T	XP_011528272.1:p.Thr259=
XM_011529971.1:c.786C>T	XP_011528273.1:p.Thr262=
XM_011529972.1:c.844-263C>T	XP_011528274.1:n.844-263C>T
NM_000106.6:c.930C>T MANE Select	NP_000097.3:p.Thr310=
NM_001025161.3:c.777C>T	NP_001020332.2:p.Thr259=