Canonical Allele Identifier: CA411774167

Gene: CYP2D6

Linked Data

• dbSNP Id: rs1288779666
• gnomAD v2: 22-42524946-C-G
• gnomAD v4: 22-42128944-C-G
• MyVariant Identifiers: chr22:g.42524946C>G (hg19) ; chr22:g.42128944C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42128944C>G , CM000684.2:g.42128944C>G	GRCh38
NC_000022.10:g.42524946C>G , CM000684.1:g.42524946C>G	GRCh37
NC_000022.9:g.40854890C>G	NCBI36
NG_008376.3:g.6048G>C
NG_008376.4:g.6867G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360124.10:c.353G>C	ENSP00000353241.6:p.Gly118Ala
ENST00000645361.2:c.506G>C MANE Select	ENSP00000496150.1:p.Gly169Ala
ENST00000359033.4:c.353G>C	ENSP00000351927.4:p.Gly118Ala
ENST00000360124.9:c.173G>C	ENSP00000353241.5:p.Gly58Ala
ENST00000360608.9:c.506G>C	ENSP00000353820.5:p.Gly169Ala
ENST00000389970.7:c.440G>C	ENSP00000374620.4:p.Gly147Ala
ENST00000488442.1:n.1230G>C
NM_000106.5:c.506G>C	NP_000097.3:p.Gly169Ala
NM_001025161.2:c.353G>C	NP_001020332.2:p.Gly118Ala
XM_011529966.1:c.506G>C	XP_011528268.1:p.Gly169Ala
XM_011529967.1:c.506G>C	XP_011528269.1:p.Gly169Ala
XM_011529968.1:c.506G>C	XP_011528270.1:p.Gly169Ala
XM_011529969.1:c.363-1G>C	XP_011528271.1:n.363-1G>C
XM_011529970.1:c.353G>C	XP_011528272.1:p.Gly118Ala
XM_011529971.1:c.363-1G>C	XP_011528273.1:n.363-1G>C
XM_011529972.1:c.506G>C	XP_011528274.1:p.Gly169Ala
NM_000106.6:c.506G>C MANE Select	NP_000097.3:p.Gly169Ala
NM_001025161.3:c.353G>C	NP_001020332.2:p.Gly118Ala