Canonical Allele Identifier: CA324670373

Gene: CYP2D6

Linked Data

• dbSNP Id: rs267608279
• gnomAD v4: 22-42127962-TG-T
• MyVariant Identifiers: chr22:g.42523965del (hg19) ; chr22:g.42127963del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42127963del , CM000684.2:g.42127963del	GRCh38
NC_000022.10:g.42523965del , CM000684.1:g.42523965del	GRCh37
NC_000022.9:g.40853909del	NCBI36
NG_008376.3:g.7029del
NG_008376.4:g.7848del

Transcript Alleles

HGVS	Amino-acid change
ENST00000360124.10:c.691-29del	ENSP00000353241.6:n.691-29del
ENST00000645361.2:c.864del MANE Select	ENSP00000496150.1:p.Ser288ArgfsTer10
ENST00000359033.4:c.711del	ENSP00000351927.4:p.Ser237ArgfsTer10
ENST00000360124.9:c.511-29del	ENSP00000353241.5:n.511-29del
ENST00000360608.9:c.864del	ENSP00000353820.5:p.Ser288ArgfsTer10
ENST00000389970.7:c.798del	ENSP00000374620.4:p.Ser266ArgfsTer10
ENST00000488442.1:n.1588del
NM_000106.5:c.864del	NP_000097.3:p.Ser288ArgfsTer10
NM_001025161.2:c.711del	NP_001020332.2:p.Ser237ArgfsTer10
XM_011529966.1:c.864del	XP_011528268.1:p.Ser288ArgfsTer10
XM_011529967.1:c.864del	XP_011528269.1:p.Ser288ArgfsTer10
XM_011529968.1:c.864del	XP_011528270.1:p.Ser288ArgfsTer10
XM_011529969.1:c.720del	XP_011528271.1:p.Ser240ArgfsTer10
XM_011529970.1:c.711del	XP_011528272.1:p.Ser237ArgfsTer10
XM_011529971.1:c.720del	XP_011528273.1:p.Ser240ArgfsTer10
XM_011529972.1:c.843+211del	XP_011528274.1:n.843+211del
NM_000106.6:c.864del MANE Select	NP_000097.3:p.Ser288ArgfsTer10
NM_001025161.3:c.711del	NP_001020332.2:p.Ser237ArgfsTer10