Canonical Allele Identifier: CA411772331

Gene: CYP2D6

Linked Data

• gnomAD v4: 22-42127842-G-T
• MyVariant Identifiers: chr22:g.42523844G>T (hg19) ; chr22:g.42127842G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42127842G>T , CM000684.2:g.42127842G>T	GRCh38
NC_000022.10:g.42523844G>T , CM000684.1:g.42523844G>T	GRCh37
NC_000022.9:g.40853788G>T	NCBI36
NG_008376.3:g.7150C>A
NG_008376.4:g.7969C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000360124.10:c.783C>A	ENSP00000353241.6:n.783C>A
ENST00000645361.2:c.985C>A MANE Select	ENSP00000496150.1:p.Arg329Ser
ENST00000359033.4:c.832C>A	ENSP00000351927.4:p.Arg278Ser
ENST00000360124.9:c.603C>A	ENSP00000353241.5:n.603C>A
ENST00000360608.9:c.985C>A	ENSP00000353820.5:p.Arg329Ser
ENST00000389970.7:c.919C>A	ENSP00000374620.4:p.Gln307Lys
ENST00000488442.1:n.1709C>A
NM_000106.5:c.985C>A	NP_000097.3:p.Arg329Ser
NM_001025161.2:c.832C>A	NP_001020332.2:p.Arg278Ser
XM_011529966.1:c.985C>A	XP_011528268.1:p.Arg329Ser
XM_011529967.1:c.985C>A	XP_011528269.1:p.Arg329Ser
XM_011529968.1:c.985C>A	XP_011528270.1:p.Arg329Ser
XM_011529969.1:c.841C>A	XP_011528271.1:p.Arg281Ser
XM_011529970.1:c.832C>A	XP_011528272.1:p.Arg278Ser
XM_011529971.1:c.841C>A	XP_011528273.1:p.Arg281Ser
XM_011529972.1:c.844-208C>A	XP_011528274.1:n.844-208C>A
NM_000106.6:c.985C>A MANE Select	NP_000097.3:p.Arg329Ser
NM_001025161.3:c.832C>A	NP_001020332.2:p.Arg278Ser