Canonical Allele Identifier: CA10264689

Gene: CYP2D6

Linked Data

• ClinVar Variation Id: 2653239
• ClinVar RCV Id: RCV003437621
• dbSNP Id: rs78209835
• ExAC: 22:42523613 C / T
• gnomAD v2: 22-42523613-C-T
• gnomAD v3: 22-42127611-C-T
• gnomAD v4: 22-42127611-C-T
• COSMIC: COSM4156343 ; COSM4156344
• MyVariant Identifiers: chr22:g.42523613C>T (hg19) ; chr22:g.42127611C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42127611C>T , CM000684.2:g.42127611C>T	GRCh38
NC_000022.10:g.42523613C>T , CM000684.1:g.42523613C>T	GRCh37
NC_000022.9:g.40853557C>T	NCBI36
NG_008376.3:g.7381G>A
NG_008376.4:g.8200G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000360124.10:c.807G>A	ENSP00000353241.6:n.807G>A
ENST00000645361.2:c.1009G>A MANE Select	ENSP00000496150.1:p.Asp337Asn
ENST00000359033.4:c.856G>A	ENSP00000351927.4:p.Asp286Asn
ENST00000360124.9:c.627G>A	ENSP00000353241.5:n.627G>A
ENST00000360608.9:c.1009G>A	ENSP00000353820.5:p.Asp337Asn
ENST00000389970.7:c.1000G>A	ENSP00000374620.4:p.Asp334Asn
ENST00000488442.1:n.1733G>A
NM_000106.5:c.1009G>A	NP_000097.3:p.Asp337Asn
NM_001025161.2:c.856G>A	NP_001020332.2:p.Asp286Asn
XM_011529966.1:c.1009G>A	XP_011528268.1:p.Asp337Asn
XM_011529967.1:c.1009G>A	XP_011528269.1:p.Asp337Asn
XM_011529968.1:c.1009G>A	XP_011528270.1:p.Asp337Asn
XM_011529969.1:c.865G>A	XP_011528271.1:p.Asp289Asn
XM_011529970.1:c.856G>A	XP_011528272.1:p.Asp286Asn
XM_011529971.1:c.865G>A	XP_011528273.1:p.Asp289Asn
XM_011529972.1:c.867G>A	XP_011528274.1:p.Thr289=
NM_000106.6:c.1009G>A MANE Select	NP_000097.3:p.Asp337Asn
NM_001025161.3:c.856G>A	NP_001020332.2:p.Asp286Asn