Canonical Allele Identifier: CA411772773

Gene: CYP2D6

Linked Data

• dbSNP Id: rs1931209794
• gnomAD v4: 22-42127935-C-G
• MyVariant Identifiers: chr22:g.42523937C>G (hg19) ; chr22:g.42127935C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42127935C>G , CM000684.2:g.42127935C>G	GRCh38
NC_000022.10:g.42523937C>G , CM000684.1:g.42523937C>G	GRCh37
NC_000022.9:g.40853881C>G	NCBI36
NG_008376.3:g.7057G>C
NG_008376.4:g.7876G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.691-1G>C	ENSP00000353241.6:n.691-1G>C
ENST00000645361.2:c.892G>C MANE Select	ENSP00000496150.1:p.Val298Leu
ENST00000359033.4:c.739G>C	ENSP00000351927.4:p.Val247Leu
ENST00000360124.9:c.511-1G>C	ENSP00000353241.5:n.511-1G>C
ENST00000360608.9:c.892G>C	ENSP00000353820.5:p.Val298Leu
ENST00000389970.7:c.826G>C	ENSP00000374620.4:p.Val276Leu
ENST00000488442.1:n.1616G>C
NM_000106.5:c.892G>C	NP_000097.3:p.Val298Leu
NM_001025161.2:c.739G>C	NP_001020332.2:p.Val247Leu
XM_011529966.1:c.892G>C	XP_011528268.1:p.Val298Leu
XM_011529967.1:c.892G>C	XP_011528269.1:p.Val298Leu
XM_011529968.1:c.892G>C	XP_011528270.1:p.Val298Leu
XM_011529969.1:c.748G>C	XP_011528271.1:p.Val250Leu
XM_011529970.1:c.739G>C	XP_011528272.1:p.Val247Leu
XM_011529971.1:c.748G>C	XP_011528273.1:p.Val250Leu
XM_011529972.1:c.843+239G>C	XP_011528274.1:n.843+239G>C
NM_000106.6:c.892G>C MANE Select	NP_000097.3:p.Val298Leu
NM_001025161.3:c.739G>C	NP_001020332.2:p.Val247Leu