Canonical Allele Identifier: CA324665983

Gene: CYP2D6

Linked Data

• dbSNP Id: rs187334823
• gnomAD v2: 22-42523788-C-A
• gnomAD v3: 22-42127786-C-A
• gnomAD v4: 22-42127786-C-A
• MyVariant Identifiers: chr22:g.42523788C>A (hg19) ; chr22:g.42127786C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42127786C>A , CM000684.2:g.42127786C>A	GRCh38
NC_000022.10:g.42523788C>A , CM000684.1:g.42523788C>A	GRCh37
NC_000022.9:g.40853732C>A	NCBI36
NG_008376.3:g.7206G>T
NG_008376.4:g.8025G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.783+56G>T	ENSP00000353241.6:n.783+56G>T
ENST00000645361.2:c.985+56G>T MANE Select	ENSP00000496150.1:n.985+56G>T
ENST00000359033.4:c.832+56G>T	ENSP00000351927.4:n.832+56G>T
ENST00000360124.9:c.603+56G>T	ENSP00000353241.5:n.603+56G>T
ENST00000360608.9:c.985+56G>T	ENSP00000353820.5:n.985+56G>T
ENST00000389970.7:c.943G>T	ENSP00000374620.4:p.Ala315Ser
ENST00000488442.1:n.1709+56G>T
NM_000106.5:c.985+56G>T	NP_000097.3:n.985+56G>T
NM_001025161.2:c.832+56G>T	NP_001020332.2:n.832+56G>T
XM_011529966.1:c.985+56G>T	XP_011528268.1:n.985+56G>T
XM_011529967.1:c.985+56G>T	XP_011528269.1:n.985+56G>T
XM_011529968.1:c.985+56G>T	XP_011528270.1:n.985+56G>T
XM_011529969.1:c.841+56G>T	XP_011528271.1:n.841+56G>T
XM_011529970.1:c.832+56G>T	XP_011528272.1:n.832+56G>T
XM_011529971.1:c.841+56G>T	XP_011528273.1:n.841+56G>T
XM_011529972.1:c.844-152G>T	XP_011528274.1:n.844-152G>T
NM_000106.6:c.985+56G>T MANE Select	NP_000097.3:n.985+56G>T
NM_001025161.3:c.832+56G>T	NP_001020332.2:n.832+56G>T