Canonical Allele Identifier: CA411773573

Gene: CYP2D6

Linked Data

• dbSNP Id: rs753365216
• gnomAD v2: 22-42524328-G-C
• gnomAD v4: 22-42128326-G-C
• MyVariant Identifiers: chr22:g.42524328G>C (hg19) ; chr22:g.42128326G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42128326G>C , CM000684.2:g.42128326G>C	GRCh38
NC_000022.10:g.42524328G>C , CM000684.1:g.42524328G>C	GRCh37
NC_000022.9:g.40854272G>C	NCBI36
NG_008376.3:g.6666C>G
NG_008376.4:g.7485C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.538C>G	ENSP00000353241.6:p.Leu180Val
ENST00000645361.2:c.691C>G MANE Select	ENSP00000496150.1:p.Leu231Val
ENST00000359033.4:c.538C>G	ENSP00000351927.4:p.Leu180Val
ENST00000360124.9:c.358C>G	ENSP00000353241.5:p.Leu120Val
ENST00000360608.9:c.691C>G	ENSP00000353820.5:p.Leu231Val
ENST00000389970.7:c.625C>G	ENSP00000374620.4:p.Leu209Val
ENST00000488442.1:n.1415C>G
NM_000106.5:c.691C>G	NP_000097.3:p.Leu231Val
NM_001025161.2:c.538C>G	NP_001020332.2:p.Leu180Val
XM_011529966.1:c.691C>G	XP_011528268.1:p.Leu231Val
XM_011529967.1:c.691C>G	XP_011528269.1:p.Leu231Val
XM_011529968.1:c.691C>G	XP_011528270.1:p.Leu231Val
XM_011529969.1:c.547C>G	XP_011528271.1:p.Leu183Val
XM_011529970.1:c.538C>G	XP_011528272.1:p.Leu180Val
XM_011529971.1:c.547C>G	XP_011528273.1:p.Leu183Val
XM_011529972.1:c.691C>G	XP_011528274.1:p.Leu231Val
NM_000106.6:c.691C>G MANE Select	NP_000097.3:p.Leu231Val
NM_001025161.3:c.538C>G	NP_001020332.2:p.Leu180Val