Canonical Allele Identifier: CA039192

Gene: CYP2D6

Linked Data

• ClinVar Variation Id: 16895
• ClinVar RCV Id: RCV000018391
• PubMed: PMID:7903454 ; PMID:7927337

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.[42126611C>G;42127941G>A] , CM000684.2:g.[42126611C>G;42127941G>A]	GRCh38
NG_008376.3:g.[7051C>T;8381G>C]
NG_008376.4:g.[7870C>T;9200G>C]

Transcript Alleles

HGVS	Amino-acid change
ENST00000360124.10:c.[691-7C>T;1255G>C]	ENSP00000353241.6:n.[691-7C>T;1255G>C]
ENST00000645361.2:c.[886C>T;1457G>C] MANE Select	ENSP00000496150.1:p.[Arg296Cys;Ser486Thr]...
ENST00000359033.4:c.[733C>T;1304G>C]	ENSP00000351927.4:p.[Arg245Cys;Ser435Thr]...
ENST00000360124.9:c.[511-7C>T;1075G>C]	ENSP00000353241.5:n.[511-7C>T;1075G>C]
ENST00000360608.9:c.[886C>T;1457G>C]	ENSP00000353820.5:p.[Arg296Cys;Ser486Thr]...
ENST00000389970.7:c.[820C>T;1448G>C]	ENSP00000374620.4:p.[Arg274Cys;Ser483Thr]...
ENST00000488442.1:n.[1610C>T;2181G>C]
NM_000106.5:c.[886C>T;1457G>C]	NP_000097.3:p.[Arg296Cys;Ser486Thr]
NM_001025161.2:c.[733C>T;1304G>C]	NP_001020332.2:p.[Arg245Cys;Ser435Thr]
XM_011529966.1:c.[886C>T;1452+5G>C]	XP_011528268.1:p.Arg296Cys
XM_011529967.1:c.[886C>T;1452+5G>C]	XP_011528269.1:p.Arg296Cys
XM_011529968.1:c.[886C>T;1452+5G>C]	XP_011528270.1:p.Arg296Cys
XM_011529969.1:c.[742C>T;1308+5G>C]	XP_011528271.1:p.Arg248Cys
XM_011529970.1:c.[733C>T;1299+5G>C]	XP_011528272.1:p.Arg245Cys
XM_011529971.1:c.[742C>T;1313G>C]	XP_011528273.1:p.[Arg248Cys;Ser438Thr]
NM_000106.6:c.[886C>T;1457G>C] MANE Select	NP_000097.3:p.[Arg296Cys;Ser486Thr]
NM_001025161.3:c.[733C>T;1304G>C]	NP_001020332.2:p.[Arg245Cys;Ser435Thr]