Canonical Allele Identifier: CA324671200

Gene: CYP2D6

Linked Data

• dbSNP Id: rs759554294
• gnomAD v3: 22-42128327-GAGGA-G
• gnomAD v4: 22-42128327-GAGGA-G
• MyVariant Identifiers: chr22:g.42524330_42524333del (hg19) ; chr22:g.42128328_42128331del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42128328_42128331del , CM000684.2:g.42128328_42128331del	GRCh38
NC_000022.10:g.42524330_42524333del , CM000684.1:g.42524330_42524333del	GRCh37
NC_000022.9:g.40854274_40854277del	NCBI36
NG_008376.3:g.6661_6664del
NG_008376.4:g.7480_7483del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.533_536del	ENSP00000353241.6:p.Val178AlafsTer19
ENST00000645361.2:c.686_689del MANE Select	ENSP00000496150.1:p.Val229AlafsTer19
ENST00000359033.4:c.533_536del	ENSP00000351927.4:p.Val178AlafsTer19
ENST00000360124.9:c.353_356del	ENSP00000353241.5:p.Val118AlafsTer19
ENST00000360608.9:c.686_689del	ENSP00000353820.5:p.Val229AlafsTer19
ENST00000389970.7:c.620_623del	ENSP00000374620.4:p.Val207AlafsTer19
ENST00000488442.1:n.1410_1413del
NM_000106.5:c.686_689del	NP_000097.3:p.Val229AlafsTer19
NM_001025161.2:c.533_536del	NP_001020332.2:p.Val178AlafsTer19
XM_011529966.1:c.686_689del	XP_011528268.1:p.Val229AlafsTer19
XM_011529967.1:c.686_689del	XP_011528269.1:p.Val229AlafsTer19
XM_011529968.1:c.686_689del	XP_011528270.1:p.Val229AlafsTer19
XM_011529969.1:c.542_545del	XP_011528271.1:p.Val181AlafsTer19
XM_011529970.1:c.533_536del	XP_011528272.1:p.Val178AlafsTer19
XM_011529971.1:c.542_545del	XP_011528273.1:p.Val181AlafsTer19
XM_011529972.1:c.686_689del	XP_011528274.1:p.Val229AlafsTer19
NM_000106.6:c.686_689del MANE Select	NP_000097.3:p.Val229AlafsTer19
NM_001025161.3:c.533_536del	NP_001020332.2:p.Val178AlafsTer19