Canonical Allele Identifier: CA411772779

Gene: CYP2D6

Linked Data

• gnomAD v4: 22-42127938-T-C
• MyVariant Identifiers: chr22:g.42523940T>C (hg19) ; chr22:g.42127938T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42127938T>C , CM000684.2:g.42127938T>C	GRCh38
NC_000022.10:g.42523940T>C , CM000684.1:g.42523940T>C	GRCh37
NC_000022.9:g.40853884T>C	NCBI36
NG_008376.3:g.7054A>G
NG_008376.4:g.7873A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.691-4A>G	ENSP00000353241.6:n.691-4A>G
ENST00000645361.2:c.889A>G MANE Select	ENSP00000496150.1:p.Ile297Val
ENST00000359033.4:c.736A>G	ENSP00000351927.4:p.Ile246Val
ENST00000360124.9:c.511-4A>G	ENSP00000353241.5:n.511-4A>G
ENST00000360608.9:c.889A>G	ENSP00000353820.5:p.Ile297Val
ENST00000389970.7:c.823A>G	ENSP00000374620.4:p.Ile275Val
ENST00000488442.1:n.1613A>G
NM_000106.5:c.889A>G	NP_000097.3:p.Ile297Val
NM_001025161.2:c.736A>G	NP_001020332.2:p.Ile246Val
XM_011529966.1:c.889A>G	XP_011528268.1:p.Ile297Val
XM_011529967.1:c.889A>G	XP_011528269.1:p.Ile297Val
XM_011529968.1:c.889A>G	XP_011528270.1:p.Ile297Val
XM_011529969.1:c.745A>G	XP_011528271.1:p.Ile249Val
XM_011529970.1:c.736A>G	XP_011528272.1:p.Ile246Val
XM_011529971.1:c.745A>G	XP_011528273.1:p.Ile249Val
XM_011529972.1:c.843+236A>G	XP_011528274.1:n.843+236A>G
NM_000106.6:c.889A>G MANE Select	NP_000097.3:p.Ile297Val
NM_001025161.3:c.736A>G	NP_001020332.2:p.Ile246Val