Canonical Allele Identifier: CA235495

Gene: CYP2D6

Linked Data

• ClinVar Variation Id: 183248
• ClinVar RCV Id: RCV000162081
• dbSNP Id: rs373000587
• ExAC: 22:42525172 C / A
• gnomAD v2: 22-42525172-C-A
• gnomAD v3: 22-42129170-C-A
• gnomAD v4: 22-42129170-C-A
• MyVariant Identifiers: chr22:g.42525172C>A (hg19) ; chr22:g.42129170C>A (hg38)
• PubMed: PMID:19164093

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42129170C>A , CM000684.2:g.42129170C>A	GRCh38
NC_000022.10:g.42525172C>A , CM000684.1:g.42525172C>A	GRCh37
NC_000022.9:g.40855116C>A	NCBI36
NG_008376.3:g.5822G>T
NG_008376.4:g.6641G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000360124.10:c.353-226G>T	ENSP00000353241.6:n.353-226G>T
ENST00000645361.2:c.368G>T MANE Select	ENSP00000496150.1:p.Arg123Leu
ENST00000359033.4:c.353-226G>T	ENSP00000351927.4:n.353-226G>T
ENST00000360124.9:c.173-226G>T	ENSP00000353241.5:n.173-226G>T
ENST00000360608.9:c.368G>T	ENSP00000353820.5:p.Arg123Leu
ENST00000389970.7:c.302G>T	ENSP00000374620.4:p.Arg101Leu
ENST00000488442.1:n.1092G>T
NM_000106.5:c.368G>T	NP_000097.3:p.Arg123Leu
NM_001025161.2:c.353-226G>T	NP_001020332.2:n.353-226G>T
XM_011529966.1:c.368G>T	XP_011528268.1:p.Arg123Leu
XM_011529967.1:c.368G>T	XP_011528269.1:p.Arg123Leu
XM_011529968.1:c.368G>T	XP_011528270.1:p.Arg123Leu
XM_011529969.1:c.225G>T	XP_011528271.1:p.Ala75=
XM_011529970.1:c.353-226G>T	XP_011528272.1:n.353-226G>T
XM_011529971.1:c.225G>T	XP_011528273.1:p.Ala75=
XM_011529972.1:c.368G>T	XP_011528274.1:p.Arg123Leu
NM_000106.6:c.368G>T MANE Select	NP_000097.3:p.Arg123Leu
NM_001025161.3:c.353-226G>T	NP_001020332.2:n.353-226G>T