Canonical Allele Identifier: CA10264898

Gene: CYP2D6

Linked Data

• ClinVar Variation Id: 513099
• ClinVar RCV Id: RCV000600041 ; RCV001028790 ; RCV003457727
• dbSNP Id: rs28371717
• ExAC: 22:42524310 C / A
• gnomAD v2: 22-42524310-C-A
• gnomAD v3: 22-42128308-C-A
• gnomAD v4: 22-42128308-C-A
• MyVariant Identifiers: chr22:g.42524310C>A (hg19) ; chr22:g.42128308C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42128308C>A , CM000684.2:g.42128308C>A	GRCh38
NC_000022.10:g.42524310C>A , CM000684.1:g.42524310C>A	GRCh37
NC_000022.9:g.40854254C>A	NCBI36
NG_008376.3:g.6684G>T
NG_008376.4:g.7503G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000360124.10:c.556G>T	ENSP00000353241.6:p.Ala186Ser
ENST00000645361.2:c.709G>T MANE Select	ENSP00000496150.1:p.Ala237Ser
ENST00000359033.4:c.556G>T	ENSP00000351927.4:p.Ala186Ser
ENST00000360124.9:c.376G>T	ENSP00000353241.5:p.Ala126Ser
ENST00000360608.9:c.709G>T	ENSP00000353820.5:p.Ala237Ser
ENST00000389970.7:c.643G>T	ENSP00000374620.4:p.Ala215Ser
ENST00000488442.1:n.1433G>T
NM_000106.5:c.709G>T	NP_000097.3:p.Ala237Ser
NM_001025161.2:c.556G>T	NP_001020332.2:p.Ala186Ser
XM_011529966.1:c.709G>T	XP_011528268.1:p.Ala237Ser
XM_011529967.1:c.709G>T	XP_011528269.1:p.Ala237Ser
XM_011529968.1:c.709G>T	XP_011528270.1:p.Ala237Ser
XM_011529969.1:c.565G>T	XP_011528271.1:p.Ala189Ser
XM_011529970.1:c.556G>T	XP_011528272.1:p.Ala186Ser
XM_011529971.1:c.565G>T	XP_011528273.1:p.Ala189Ser
XM_011529972.1:c.709G>T	XP_011528274.1:p.Ala237Ser
NM_000106.6:c.709G>T MANE Select	NP_000097.3:p.Ala237Ser
NM_001025161.3:c.556G>T	NP_001020332.2:p.Ala186Ser