Canonical Allele Identifier: CA10264765

Gene: CYP2D6

Linked Data

• dbSNP Id: rs773889591
• ExAC: 22:42523876 A / T
• gnomAD v2: 22-42523876-A-T
• MyVariant Identifiers: chr22:g.42523876A>T (hg19) ; chr22:g.42127874A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42127874A>T , CM000684.2:g.42127874A>T	GRCh38
NC_000022.10:g.42523876A>T , CM000684.1:g.42523876A>T	GRCh37
NC_000022.9:g.40853820A>T	NCBI36
NG_008376.3:g.7118T>A
NG_008376.4:g.7937T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.751T>A	ENSP00000353241.6:n.751T>A
ENST00000645361.2:c.953T>A MANE Select	ENSP00000496150.1:p.Leu318His
ENST00000359033.4:c.800T>A	ENSP00000351927.4:p.Leu267His
ENST00000360124.9:c.571T>A	ENSP00000353241.5:n.571T>A
ENST00000360608.9:c.953T>A	ENSP00000353820.5:p.Leu318His
ENST00000389970.7:c.887T>A	ENSP00000374620.4:p.Leu296His
ENST00000488442.1:n.1677T>A
NM_000106.5:c.953T>A	NP_000097.3:p.Leu318His
NM_001025161.2:c.800T>A	NP_001020332.2:p.Leu267His
XM_011529966.1:c.953T>A	XP_011528268.1:p.Leu318His
XM_011529967.1:c.953T>A	XP_011528269.1:p.Leu318His
XM_011529968.1:c.953T>A	XP_011528270.1:p.Leu318His
XM_011529969.1:c.809T>A	XP_011528271.1:p.Leu270His
XM_011529970.1:c.800T>A	XP_011528272.1:p.Leu267His
XM_011529971.1:c.809T>A	XP_011528273.1:p.Leu270His
XM_011529972.1:c.844-240T>A	XP_011528274.1:n.844-240T>A
NM_000106.6:c.953T>A MANE Select	NP_000097.3:p.Leu318His
NM_001025161.3:c.800T>A	NP_001020332.2:p.Leu267His