Canonical Allele Identifier: CA411773263

Gene: CYP2D6

Linked Data

• gnomAD v4: 22-42128237-C-G
• MyVariant Identifiers: chr22:g.42524239C>G (hg19) ; chr22:g.42128237C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42128237C>G , CM000684.2:g.42128237C>G	GRCh38
NC_000022.10:g.42524239C>G , CM000684.1:g.42524239C>G	GRCh37
NC_000022.9:g.40854183C>G	NCBI36
NG_008376.3:g.6755G>C
NG_008376.4:g.7574G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.627G>C	ENSP00000353241.6:p.Met209Ile
ENST00000645361.2:c.780G>C MANE Select	ENSP00000496150.1:p.Met260Ile
ENST00000359033.4:c.627G>C	ENSP00000351927.4:p.Met209Ile
ENST00000360124.9:c.447G>C	ENSP00000353241.5:p.Met149Ile
ENST00000360608.9:c.780G>C	ENSP00000353820.5:p.Met260Ile
ENST00000389970.7:c.714G>C	ENSP00000374620.4:p.Met238Ile
ENST00000488442.1:n.1504G>C
NM_000106.5:c.780G>C	NP_000097.3:p.Met260Ile
NM_001025161.2:c.627G>C	NP_001020332.2:p.Met209Ile
XM_011529966.1:c.780G>C	XP_011528268.1:p.Met260Ile
XM_011529967.1:c.780G>C	XP_011528269.1:p.Met260Ile
XM_011529968.1:c.780G>C	XP_011528270.1:p.Met260Ile
XM_011529969.1:c.636G>C	XP_011528271.1:p.Met212Ile
XM_011529970.1:c.627G>C	XP_011528272.1:p.Met209Ile
XM_011529971.1:c.636G>C	XP_011528273.1:p.Met212Ile
XM_011529972.1:c.780G>C	XP_011528274.1:p.Met260Ile
NM_000106.6:c.780G>C MANE Select	NP_000097.3:p.Met260Ile
NM_001025161.3:c.627G>C	NP_001020332.2:p.Met209Ile