Canonical Allele Identifier: CA411769860

Gene: CYP2D6

Linked Data

• dbSNP Id: rs766507177
• gnomAD v2: 22-42522637-T-C
• gnomAD v4: 22-42126635-T-C
• MyVariant Identifiers: chr22:g.42522637T>C (hg19) ; chr22:g.42126635T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42126635T>C , CM000684.2:g.42126635T>C	GRCh38
NC_000022.10:g.42522637T>C , CM000684.1:g.42522637T>C	GRCh37
NC_000022.9:g.40852581T>C	NCBI36
NG_008376.3:g.8357A>G
NG_008376.4:g.9176A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.1231A>G	ENSP00000353241.6:n.1231A>G
ENST00000645361.2:c.1433A>G MANE Select	ENSP00000496150.1:p.His478Arg
ENST00000359033.4:c.1280A>G	ENSP00000351927.4:p.His427Arg
ENST00000360124.9:c.1051A>G	ENSP00000353241.5:n.1051A>G
ENST00000360608.9:c.1433A>G	ENSP00000353820.5:p.His478Arg
ENST00000389970.7:c.1424A>G	ENSP00000374620.4:p.His475Arg
ENST00000488442.1:n.2157A>G
NM_000106.5:c.1433A>G	NP_000097.3:p.His478Arg
NM_001025161.2:c.1280A>G	NP_001020332.2:p.His427Arg
XM_011529966.1:c.1433A>G	XP_011528268.1:p.His478Arg
XM_011529967.1:c.1433A>G	XP_011528269.1:p.His478Arg
XM_011529968.1:c.1433A>G	XP_011528270.1:p.His478Arg
XM_011529969.1:c.1289A>G	XP_011528271.1:p.His430Arg
XM_011529970.1:c.1280A>G	XP_011528272.1:p.His427Arg
XM_011529971.1:c.1289A>G	XP_011528273.1:p.His430Arg
NM_000106.6:c.1433A>G MANE Select	NP_000097.3:p.His478Arg
NM_001025161.3:c.1280A>G	NP_001020332.2:p.His427Arg