Canonical Allele Identifier: CA324675232

Gene: CYP2D6

Linked Data

• dbSNP Id: rs778616925
• gnomAD v4: 22-42130581-C-CTCTG
• MyVariant Identifiers: chr22:g.42526583_42526584insTCTG (hg19) ; chr22:g.42130581_42130582insTCTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42130582_42130585dup , CM000684.2:g.42130582_42130585dup	GRCh38
NC_000022.10:g.42526584_42526587dup , CM000684.1:g.42526584_42526587dup	GRCh37
NC_000022.9:g.40856528_40856531dup	NCBI36
NG_008376.3:g.4407_4410dup
NG_008376.4:g.5226_5229dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.180+27_180+30dup	ENSP00000353241.6:n.180+27_180+30dup
ENST00000645361.2:c.180+27_180+30dup MANE Select	ENSP00000496150.1:n.180+27_180+30dup
ENST00000359033.4:c.180+27_180+30dup	ENSP00000351927.4:n.180+27_180+30dup
ENST00000360608.9:c.180+27_180+30dup	ENSP00000353820.5:n.180+27_180+30dup
ENST00000389970.7:c.114+27_114+30dup	ENSP00000374620.4:n.114+27_114+30dup
ENST00000488442.1:n.229_232dup
NM_000106.5:c.180+27_180+30dup	NP_000097.3:n.180+27_180+30dup
NM_001025161.2:c.180+27_180+30dup	NP_001020332.2:n.180+27_180+30dup
XM_011529966.1:c.180+27_180+30dup	XP_011528268.1:n.180+27_180+30dup
XM_011529967.1:c.180+27_180+30dup	XP_011528269.1:n.180+27_180+30dup
XM_011529968.1:c.180+27_180+30dup	XP_011528270.1:n.180+27_180+30dup
XM_011529969.1:c.38-676_38-673dup	XP_011528271.1:n.38-676_38-673dup
XM_011529970.1:c.180+27_180+30dup	XP_011528272.1:n.180+27_180+30dup
XM_011529971.1:c.38-676_38-673dup	XP_011528273.1:n.38-676_38-673dup
XM_011529972.1:c.180+27_180+30dup	XP_011528274.1:n.180+27_180+30dup
XR_430455.2:n.222_225dup
NM_000106.6:c.180+27_180+30dup MANE Select	NP_000097.3:n.180+27_180+30dup
XR_002958749.1:n.169_172dup
NM_001025161.3:c.180+27_180+30dup	NP_001020332.2:n.180+27_180+30dup