Canonical Allele Identifier: CA639827956

Gene: CYP2D6

Linked Data

• dbSNP Id: rs1396192936
• gnomAD v2: 22-42524261-TCA-T
• gnomAD v4: 22-42128259-TCA-T
• MyVariant Identifiers: chr22:g.42524262_42524263del (hg19) ; chr22:g.42128260_42128261del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42128260_42128261del , CM000684.2:g.42128260_42128261del	GRCh38
NC_000022.10:g.42524262_42524263del , CM000684.1:g.42524262_42524263del	GRCh37
NC_000022.9:g.40854206_40854207del	NCBI36
NG_008376.3:g.6731_6732del
NG_008376.4:g.7550_7551del

Transcript Alleles

HGVS	Amino-acid change
ENST00000360124.10:c.603_604del	ENSP00000353241.6:p.Asp201GlufsTer5
ENST00000645361.2:c.756_757del MANE Select	ENSP00000496150.1:p.Asp252GlufsTer5
ENST00000359033.4:c.603_604del	ENSP00000351927.4:p.Asp201GlufsTer5
ENST00000360124.9:c.423_424del	ENSP00000353241.5:p.Asp141GlufsTer5
ENST00000360608.9:c.756_757del	ENSP00000353820.5:p.Asp252GlufsTer5
ENST00000389970.7:c.690_691del	ENSP00000374620.4:p.Asp230GlufsTer5
ENST00000488442.1:n.1480_1481del
NM_000106.5:c.756_757del	NP_000097.3:p.Asp252GlufsTer5
NM_001025161.2:c.603_604del	NP_001020332.2:p.Asp201GlufsTer5
XM_011529966.1:c.756_757del	XP_011528268.1:p.Asp252GlufsTer5
XM_011529967.1:c.756_757del	XP_011528269.1:p.Asp252GlufsTer5
XM_011529968.1:c.756_757del	XP_011528270.1:p.Asp252GlufsTer5
XM_011529969.1:c.612_613del	XP_011528271.1:p.Asp204GlufsTer5
XM_011529970.1:c.603_604del	XP_011528272.1:p.Asp201GlufsTer5
XM_011529971.1:c.612_613del	XP_011528273.1:p.Asp204GlufsTer5
XM_011529972.1:c.756_757del	XP_011528274.1:p.Asp252GlufsTer5
NM_000106.6:c.756_757del MANE Select	NP_000097.3:p.Asp252GlufsTer5
NM_001025161.3:c.603_604del	NP_001020332.2:p.Asp201GlufsTer5