Canonical Allele Identifier: CA514800422

Gene: CYP2D6

Linked Data

• dbSNP Id: rs1252148623
• gnomAD v2: 22-42523898-AGGT-A
• gnomAD v3: 22-42127896-AGGT-A
• gnomAD v4: 22-42127896-AGGT-A
• MyVariant Identifiers: chr22:g.42523899_42523901del (hg19) ; chr22:g.42127897_42127899del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42127900_42127902del , CM000684.2:g.42127900_42127902del	GRCh38
NC_000022.10:g.42523902_42523904del , CM000684.1:g.42523902_42523904del	GRCh37
NC_000022.9:g.40853846_40853848del	NCBI36
NG_008376.3:g.7093_7095del
NG_008376.4:g.7912_7914del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.726_728del	ENSP00000353241.6:n.726_728del
ENST00000645361.2:c.928_930del MANE Select	ENSP00000496150.1:p.Thr310del
ENST00000359033.4:c.775_777del	ENSP00000351927.4:p.Thr259del
ENST00000360124.9:c.546_548del	ENSP00000353241.5:n.546_548del
ENST00000360608.9:c.928_930del	ENSP00000353820.5:p.Thr310del
ENST00000389970.7:c.862_864del	ENSP00000374620.4:p.Thr288del
ENST00000488442.1:n.1652_1654del
NM_000106.5:c.928_930del	NP_000097.3:p.Thr310del
NM_001025161.2:c.775_777del	NP_001020332.2:p.Thr259del
XM_011529966.1:c.928_930del	XP_011528268.1:p.Thr310del
XM_011529967.1:c.928_930del	XP_011528269.1:p.Thr310del
XM_011529968.1:c.928_930del	XP_011528270.1:p.Thr310del
XM_011529969.1:c.784_786del	XP_011528271.1:p.Thr262del
XM_011529970.1:c.775_777del	XP_011528272.1:p.Thr259del
XM_011529971.1:c.784_786del	XP_011528273.1:p.Thr262del
XM_011529972.1:c.844-265_844-263del	XP_011528274.1:n.844-265_844-263del
NM_000106.6:c.928_930del MANE Select	NP_000097.3:p.Thr310del
NM_001025161.3:c.775_777del	NP_001020332.2:p.Thr259del