Canonical Allele Identifier: CA10264850

Gene: CYP2D6

Linked Data

• dbSNP Id: rs762158210
• ExAC: 22:42524178 TCTC / T
• gnomAD v2: 22-42524178-TCTC-T
• gnomAD v3: 22-42128176-TCTC-T
• gnomAD v4: 22-42128176-TCTC-T
• MyVariant Identifiers: chr22:g.42524179_42524181del (hg19) ; chr22:g.42128177_42128179del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42128178_42128180del , CM000684.2:g.42128178_42128180del	GRCh38
NC_000022.10:g.42524180_42524182del , CM000684.1:g.42524180_42524182del	GRCh37
NC_000022.9:g.40854124_40854126del	NCBI36
NG_008376.3:g.6813_6815del
NG_008376.4:g.7632_7634del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.685_687del	ENSP00000353241.6:p.Glu229del
ENST00000645361.2:c.838_840del MANE Select	ENSP00000496150.1:p.Glu280del
ENST00000359033.4:c.685_687del	ENSP00000351927.4:p.Glu229del
ENST00000360124.9:c.505_507del	ENSP00000353241.5:p.Glu169del
ENST00000360608.9:c.838_840del	ENSP00000353820.5:p.Glu280del
ENST00000389970.7:c.772_774del	ENSP00000374620.4:p.Glu258del
ENST00000488442.1:n.1562_1564del
NM_000106.5:c.838_840del	NP_000097.3:p.Glu280del
NM_001025161.2:c.685_687del	NP_001020332.2:p.Glu229del
XM_011529966.1:c.838_840del	XP_011528268.1:p.Glu280del
XM_011529967.1:c.838_840del	XP_011528269.1:p.Glu280del
XM_011529968.1:c.838_840del	XP_011528270.1:p.Glu280del
XM_011529969.1:c.694_696del	XP_011528271.1:p.Glu232del
XM_011529970.1:c.685_687del	XP_011528272.1:p.Glu229del
XM_011529971.1:c.694_696del	XP_011528273.1:p.Glu232del
XM_011529972.1:c.838_840del	XP_011528274.1:p.Glu280del
NM_000106.6:c.838_840del MANE Select	NP_000097.3:p.Glu280del
NM_001025161.3:c.685_687del	NP_001020332.2:p.Glu229del