Canonical Allele Identifier: CA514800404

Gene: CYP2D6

Linked Data

• ClinVar Variation Id: 829696
• ClinVar RCV Id: RCV001029624
• dbSNP Id: rs1569020753
• gnomAD v4: 22-42127885-C-T
• MyVariant Identifiers: chr22:g.42523887C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42127885C>T , CM000684.2:g.42127885C>T	GRCh38
NC_000022.10:g.42523887C>T , CM000684.1:g.42523887C>T	GRCh37
NC_000022.9:g.40853831C>T	NCBI36
NG_008376.3:g.7107G>A
NG_008376.4:g.7926G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.740G>A	ENSP00000353241.6:n.740G>A
ENST00000645361.2:c.942G>A MANE Select	ENSP00000496150.1:p.Leu314=
ENST00000359033.4:c.789G>A	ENSP00000351927.4:p.Leu263=
ENST00000360124.9:c.560G>A	ENSP00000353241.5:n.560G>A
ENST00000360608.9:c.942G>A	ENSP00000353820.5:p.Leu314=
ENST00000389970.7:c.876G>A	ENSP00000374620.4:p.Leu292=
ENST00000488442.1:n.1666G>A
NM_000106.5:c.942G>A	NP_000097.3:p.Leu314=
NM_001025161.2:c.789G>A	NP_001020332.2:p.Leu263=
XM_011529966.1:c.942G>A	XP_011528268.1:p.Leu314=
XM_011529967.1:c.942G>A	XP_011528269.1:p.Leu314=
XM_011529968.1:c.942G>A	XP_011528270.1:p.Leu314=
XM_011529969.1:c.798G>A	XP_011528271.1:p.Leu266=
XM_011529970.1:c.789G>A	XP_011528272.1:p.Leu263=
XM_011529971.1:c.798G>A	XP_011528273.1:p.Leu266=
XM_011529972.1:c.844-251G>A	XP_011528274.1:n.844-251G>A
NM_000106.6:c.942G>A MANE Select	NP_000097.3:p.Leu314=
NM_001025161.3:c.789G>A	NP_001020332.2:p.Leu263=