Canonical Allele Identifier: CA10265156

Gene: CYP2D6

Linked Data

• dbSNP Id: rs61736507
• ExAC: 22:42525180 G / T
• gnomAD v2: 22-42525180-G-T
• gnomAD v4: 22-42129178-G-T
• MyVariant Identifiers: chr22:g.42525180G>T (hg19) ; chr22:g.42129178G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42129178G>T , CM000684.2:g.42129178G>T	GRCh38
NC_000022.10:g.42525180G>T , CM000684.1:g.42525180G>T	GRCh37
NC_000022.9:g.40855124G>T	NCBI36
NG_008376.3:g.5814C>A
NG_008376.4:g.6633C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.353-234C>A	ENSP00000353241.6:n.353-234C>A
ENST00000645361.2:c.360C>A MANE Select	ENSP00000496150.1:p.Phe120Leu
ENST00000359033.4:c.353-234C>A	ENSP00000351927.4:n.353-234C>A
ENST00000360124.9:c.173-234C>A	ENSP00000353241.5:n.173-234C>A
ENST00000360608.9:c.360C>A	ENSP00000353820.5:p.Phe120Leu
ENST00000389970.7:c.294C>A	ENSP00000374620.4:p.Phe98Leu
ENST00000488442.1:n.1084C>A
NM_000106.5:c.360C>A	NP_000097.3:p.Phe120Leu
NM_001025161.2:c.353-234C>A	NP_001020332.2:n.353-234C>A
XM_011529966.1:c.360C>A	XP_011528268.1:p.Phe120Leu
XM_011529967.1:c.360C>A	XP_011528269.1:p.Phe120Leu
XM_011529968.1:c.360C>A	XP_011528270.1:p.Phe120Leu
XM_011529969.1:c.217C>A	XP_011528271.1:p.Pro73Thr
XM_011529970.1:c.353-234C>A	XP_011528272.1:n.353-234C>A
XM_011529971.1:c.217C>A	XP_011528273.1:p.Pro73Thr
XM_011529972.1:c.360C>A	XP_011528274.1:p.Phe120Leu
NM_000106.6:c.360C>A MANE Select	NP_000097.3:p.Phe120Leu
NM_001025161.3:c.353-234C>A	NP_001020332.2:n.353-234C>A