Canonical Allele Identifier: CA411773995

Gene: CYP2D6

Linked Data

• dbSNP Id: rs2146937138
• gnomAD v4: 22-42128893-A-G
• MyVariant Identifiers: chr22:g.42524895A>G (hg19) ; chr22:g.42128893A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42128893A>G , CM000684.2:g.42128893A>G	GRCh38
NC_000022.10:g.42524895A>G , CM000684.1:g.42524895A>G	GRCh37
NC_000022.9:g.40854839A>G	NCBI36
NG_008376.3:g.6099T>C
NG_008376.4:g.6918T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.404T>C	ENSP00000353241.6:p.Ile135Thr
ENST00000645361.2:c.557T>C MANE Select	ENSP00000496150.1:p.Ile186Thr
ENST00000359033.4:c.404T>C	ENSP00000351927.4:p.Ile135Thr
ENST00000360124.9:c.224T>C	ENSP00000353241.5:p.Ile75Thr
ENST00000360608.9:c.557T>C	ENSP00000353820.5:p.Ile186Thr
ENST00000389970.7:c.491T>C	ENSP00000374620.4:p.Ile164Thr
ENST00000488442.1:n.1281T>C
NM_000106.5:c.557T>C	NP_000097.3:p.Ile186Thr
NM_001025161.2:c.404T>C	NP_001020332.2:p.Ile135Thr
XM_011529966.1:c.557T>C	XP_011528268.1:p.Ile186Thr
XM_011529967.1:c.557T>C	XP_011528269.1:p.Ile186Thr
XM_011529968.1:c.557T>C	XP_011528270.1:p.Ile186Thr
XM_011529969.1:c.413T>C	XP_011528271.1:p.Ile138Thr
XM_011529970.1:c.404T>C	XP_011528272.1:p.Ile135Thr
XM_011529971.1:c.413T>C	XP_011528273.1:p.Ile138Thr
XM_011529972.1:c.557T>C	XP_011528274.1:p.Ile186Thr
NM_000106.6:c.557T>C MANE Select	NP_000097.3:p.Ile186Thr
NM_001025161.3:c.404T>C	NP_001020332.2:p.Ile135Thr