Canonical Allele Identifier: CA10264991

Gene: CYP2D6

Linked Data

• dbSNP Id: rs775120899
• ExAC: 22:42524809 CCTT / C
• gnomAD v2: 22-42524809-CCTT-C
• gnomAD v4: 22-42128807-CCTT-C
• MyVariant Identifiers: chr22:g.42524810_42524812del (hg19) ; chr22:g.42128808_42128810del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42128809_42128811del , CM000684.2:g.42128809_42128811del	GRCh38
NC_000022.10:g.42524811_42524813del , CM000684.1:g.42524811_42524813del	GRCh37
NC_000022.9:g.40854755_40854757del	NCBI36
NG_008376.3:g.6182_6184del
NG_008376.4:g.7001_7003del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.487_489del	ENSP00000353241.6:p.Lys163del
ENST00000645361.2:c.640_642del MANE Select	ENSP00000496150.1:p.Lys214del
ENST00000359033.4:c.487_489del	ENSP00000351927.4:p.Lys163del
ENST00000360124.9:c.307_309del	ENSP00000353241.5:p.Lys103del
ENST00000360608.9:c.640_642del	ENSP00000353820.5:p.Lys214del
ENST00000389970.7:c.574_576del	ENSP00000374620.4:p.Lys192del
ENST00000488442.1:n.1364_1366del
NM_000106.5:c.640_642del	NP_000097.3:p.Lys214del
NM_001025161.2:c.487_489del	NP_001020332.2:p.Lys163del
XM_011529966.1:c.640_642del	XP_011528268.1:p.Lys214del
XM_011529967.1:c.640_642del	XP_011528269.1:p.Lys214del
XM_011529968.1:c.640_642del	XP_011528270.1:p.Lys214del
XM_011529969.1:c.496_498del	XP_011528271.1:p.Lys166del
XM_011529970.1:c.487_489del	XP_011528272.1:p.Lys163del
XM_011529971.1:c.496_498del	XP_011528273.1:p.Lys166del
XM_011529972.1:c.640_642del	XP_011528274.1:p.Lys214del
NM_000106.6:c.640_642del MANE Select	NP_000097.3:p.Lys214del
NM_001025161.3:c.487_489del	NP_001020332.2:p.Lys163del