Canonical Allele Identifier: CA324671275

Gene: CYP2D6

Linked Data

• dbSNP Id: rs951734563
• gnomAD v3: 22-42128337-A-ACAGCATT
• gnomAD v4: 22-42128337-A-ACAGCATT
• MyVariant Identifiers: chr22:g.42524339_42524340insCAGCATT (hg19) ; chr22:g.42128337_42128338insCAGCATT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42128343_42128349dup , CM000684.2:g.42128343_42128349dup	GRCh38
NC_000022.10:g.42524345_42524351dup , CM000684.1:g.42524345_42524351dup	GRCh37
NC_000022.9:g.40854289_40854295dup	NCBI36
NG_008376.3:g.6648_6654dup
NG_008376.4:g.7467_7473dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.520_526dup	ENSP00000353241.6:p.Val176GlufsTer29
ENST00000645361.2:c.673_679dup MANE Select	ENSP00000496150.1:p.Val227GlufsTer29
ENST00000359033.4:c.520_526dup	ENSP00000351927.4:p.Val176GlufsTer29
ENST00000360124.9:c.340_346dup	ENSP00000353241.5:p.Val116GlufsTer29
ENST00000360608.9:c.673_679dup	ENSP00000353820.5:p.Val227GlufsTer29
ENST00000389970.7:c.607_613dup	ENSP00000374620.4:p.Val205GlufsTer29
ENST00000488442.1:n.1397_1403dup
NM_000106.5:c.673_679dup	NP_000097.3:p.Val227GlufsTer29
NM_001025161.2:c.520_526dup	NP_001020332.2:p.Val176GlufsTer29
XM_011529966.1:c.673_679dup	XP_011528268.1:p.Val227GlufsTer29
XM_011529967.1:c.673_679dup	XP_011528269.1:p.Val227GlufsTer29
XM_011529968.1:c.673_679dup	XP_011528270.1:p.Val227GlufsTer29
XM_011529969.1:c.529_535dup	XP_011528271.1:p.Val179GlufsTer29
XM_011529970.1:c.520_526dup	XP_011528272.1:p.Val176GlufsTer29
XM_011529971.1:c.529_535dup	XP_011528273.1:p.Val179GlufsTer29
XM_011529972.1:c.673_679dup	XP_011528274.1:p.Val227GlufsTer29
NM_000106.6:c.673_679dup MANE Select	NP_000097.3:p.Val227GlufsTer29
NM_001025161.3:c.520_526dup	NP_001020332.2:p.Val176GlufsTer29