Canonical Allele Identifier: CA10264894

Gene: CYP2D6

Linked Data

• dbSNP Id: rs772053385
• ExAC: 22:42524293 G / C
• gnomAD v2: 22-42524293-G-C
• gnomAD v4: 22-42128291-G-C
• MyVariant Identifiers: chr22:g.42524293G>C (hg19) ; chr22:g.42128291G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42128291G>C , CM000684.2:g.42128291G>C	GRCh38
NC_000022.10:g.42524293G>C , CM000684.1:g.42524293G>C	GRCh37
NC_000022.9:g.40854237G>C	NCBI36
NG_008376.3:g.6701C>G
NG_008376.4:g.7520C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.573C>G	ENSP00000353241.6:p.Arg191=
ENST00000645361.2:c.726C>G MANE Select	ENSP00000496150.1:p.Arg242=
ENST00000359033.4:c.573C>G	ENSP00000351927.4:p.Arg191=
ENST00000360124.9:c.393C>G	ENSP00000353241.5:p.Arg131=
ENST00000360608.9:c.726C>G	ENSP00000353820.5:p.Arg242=
ENST00000389970.7:c.660C>G	ENSP00000374620.4:p.Arg220=
ENST00000488442.1:n.1450C>G
NM_000106.5:c.726C>G	NP_000097.3:p.Arg242=
NM_001025161.2:c.573C>G	NP_001020332.2:p.Arg191=
XM_011529966.1:c.726C>G	XP_011528268.1:p.Arg242=
XM_011529967.1:c.726C>G	XP_011528269.1:p.Arg242=
XM_011529968.1:c.726C>G	XP_011528270.1:p.Arg242=
XM_011529969.1:c.582C>G	XP_011528271.1:p.Arg194=
XM_011529970.1:c.573C>G	XP_011528272.1:p.Arg191=
XM_011529971.1:c.582C>G	XP_011528273.1:p.Arg194=
XM_011529972.1:c.726C>G	XP_011528274.1:p.Arg242=
NM_000106.6:c.726C>G MANE Select	NP_000097.3:p.Arg242=
NM_001025161.3:c.573C>G	NP_001020332.2:p.Arg191=