Canonical Allele Identifier: CA10264905

Gene: CYP2D6

Linked Data

• ClinVar Variation Id: 828876
• ClinVar RCV Id: RCV001028788
• dbSNP Id: rs17002852
• ExAC: 22:42524323 A / G
• gnomAD v2: 22-42524323-A-G
• gnomAD v3: 22-42128321-A-G
• gnomAD v4: 22-42128321-A-G
• MyVariant Identifiers: chr22:g.42524323A>G (hg19) ; chr22:g.42128321A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42128321A>G , CM000684.2:g.42128321A>G	GRCh38
NC_000022.10:g.42524323A>G , CM000684.1:g.42524323A>G	GRCh37
NC_000022.9:g.40854267A>G	NCBI36
NG_008376.3:g.6671T>C
NG_008376.4:g.7490T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.543T>C	ENSP00000353241.6:p.His181=
ENST00000645361.2:c.696T>C MANE Select	ENSP00000496150.1:p.His232=
ENST00000359033.4:c.543T>C	ENSP00000351927.4:p.His181=
ENST00000360124.9:c.363T>C	ENSP00000353241.5:p.His121=
ENST00000360608.9:c.696T>C	ENSP00000353820.5:p.His232=
ENST00000389970.7:c.630T>C	ENSP00000374620.4:p.His210=
ENST00000488442.1:n.1420T>C
NM_000106.5:c.696T>C	NP_000097.3:p.His232=
NM_001025161.2:c.543T>C	NP_001020332.2:p.His181=
XM_011529966.1:c.696T>C	XP_011528268.1:p.His232=
XM_011529967.1:c.696T>C	XP_011528269.1:p.His232=
XM_011529968.1:c.696T>C	XP_011528270.1:p.His232=
XM_011529969.1:c.552T>C	XP_011528271.1:p.His184=
XM_011529970.1:c.543T>C	XP_011528272.1:p.His181=
XM_011529971.1:c.552T>C	XP_011528273.1:p.His184=
XM_011529972.1:c.696T>C	XP_011528274.1:p.His232=
NM_000106.6:c.696T>C MANE Select	NP_000097.3:p.His232=
NM_001025161.3:c.543T>C	NP_001020332.2:p.His181=