Canonical Allele Identifier: CA10264761

Gene: CYP2D6

Linked Data

• dbSNP Id: rs200234159
• ExAC: 22:42523867 A / G
• gnomAD v2: 22-42523867-A-G
• gnomAD v3: 22-42127865-A-G
• gnomAD v4: 22-42127865-A-G
• MyVariant Identifiers: chr22:g.42523867A>G (hg19) ; chr22:g.42127865A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42127865A>G , CM000684.2:g.42127865A>G	GRCh38
NC_000022.10:g.42523867A>G , CM000684.1:g.42523867A>G	GRCh37
NC_000022.9:g.40853811A>G	NCBI36
NG_008376.3:g.7127T>C
NG_008376.4:g.7946T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360124.10:c.760T>C	ENSP00000353241.6:n.760T>C
ENST00000645361.2:c.962T>C MANE Select	ENSP00000496150.1:p.Met321Thr
ENST00000359033.4:c.809T>C	ENSP00000351927.4:p.Met270Thr
ENST00000360124.9:c.580T>C	ENSP00000353241.5:n.580T>C
ENST00000360608.9:c.962T>C	ENSP00000353820.5:p.Met321Thr
ENST00000389970.7:c.896T>C	ENSP00000374620.4:p.Met299Thr
ENST00000488442.1:n.1686T>C
NM_000106.5:c.962T>C	NP_000097.3:p.Met321Thr
NM_001025161.2:c.809T>C	NP_001020332.2:p.Met270Thr
XM_011529966.1:c.962T>C	XP_011528268.1:p.Met321Thr
XM_011529967.1:c.962T>C	XP_011528269.1:p.Met321Thr
XM_011529968.1:c.962T>C	XP_011528270.1:p.Met321Thr
XM_011529969.1:c.818T>C	XP_011528271.1:p.Met273Thr
XM_011529970.1:c.809T>C	XP_011528272.1:p.Met270Thr
XM_011529971.1:c.818T>C	XP_011528273.1:p.Met273Thr
XM_011529972.1:c.844-231T>C	XP_011528274.1:n.844-231T>C
NM_000106.6:c.962T>C MANE Select	NP_000097.3:p.Met321Thr
NM_001025161.3:c.809T>C	NP_001020332.2:p.Met270Thr