Canonical Allele Identifier: CA639827884

Gene: CYP2D6

Linked Data

• dbSNP Id: rs1243903452
• gnomAD v2: 22-42522657-T-TC
• gnomAD v3: 22-42126655-T-TC
• gnomAD v4: 22-42126655-T-TC
• MyVariant Identifiers: chr22:g.42522657_42522658insC (hg19) ; chr22:g.42126655_42126656insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42126657dup , CM000684.2:g.42126657dup	GRCh38
NC_000022.10:g.42522659dup , CM000684.1:g.42522659dup	GRCh37
NC_000022.9:g.40852603dup	NCBI36
NG_008376.3:g.8336dup
NG_008376.4:g.9155dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000360124.10:c.1210dup	ENSP00000353241.6:n.1210dup
ENST00000645361.2:c.1412dup MANE Select	ENSP00000496150.1:p.Gln472ThrfsTer20
ENST00000359033.4:c.1259dup	ENSP00000351927.4:p.Gln421ThrfsTer20
ENST00000360124.9:c.1030dup	ENSP00000353241.5:n.1030dup
ENST00000360608.9:c.1412dup	ENSP00000353820.5:p.Gln472ThrfsTer20
ENST00000389970.7:c.1403dup	ENSP00000374620.4:p.Gln469ThrfsTer20
ENST00000488442.1:n.2136dup
NM_000106.5:c.1412dup	NP_000097.3:p.Gln472ThrfsTer20
NM_001025161.2:c.1259dup	NP_001020332.2:p.Gln421ThrfsTer20
XM_011529966.1:c.1412dup	XP_011528268.1:p.Gln472ThrfsTer30
XM_011529967.1:c.1412dup	XP_011528269.1:p.Gln472ThrfsTer30
XM_011529968.1:c.1412dup	XP_011528270.1:p.Gln472ThrfsTer?
XM_011529969.1:c.1268dup	XP_011528271.1:p.Gln424ThrfsTer30
XM_011529970.1:c.1259dup	XP_011528272.1:p.Gln421ThrfsTer30
XM_011529971.1:c.1268dup	XP_011528273.1:p.Gln424ThrfsTer20
NM_000106.6:c.1412dup MANE Select	NP_000097.3:p.Gln472ThrfsTer20
NM_001025161.3:c.1259dup	NP_001020332.2:p.Gln421ThrfsTer20