Canonical Allele Identifier: CA324666386

Gene: CYP2D6

Linked Data

• dbSNP Id: rs967434863
• gnomAD v2: 22-42523915-G-A
• gnomAD v3: 22-42127913-G-A
• gnomAD v4: 22-42127913-G-A
• MyVariant Identifiers: chr22:g.42523915G>A (hg19) ; chr22:g.42127913G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42127913G>A , CM000684.2:g.42127913G>A	GRCh38
NC_000022.10:g.42523915G>A , CM000684.1:g.42523915G>A	GRCh37
NC_000022.9:g.40853859G>A	NCBI36
NG_008376.3:g.7079C>T
NG_008376.4:g.7898C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.712C>T	ENSP00000353241.6:p.Pro238Ser
ENST00000645361.2:c.914C>T MANE Select	ENSP00000496150.1:p.Ala305Val
ENST00000359033.4:c.761C>T	ENSP00000351927.4:p.Ala254Val
ENST00000360124.9:c.532C>T	ENSP00000353241.5:p.Pro178Ser
ENST00000360608.9:c.914C>T	ENSP00000353820.5:p.Ala305Val
ENST00000389970.7:c.848C>T	ENSP00000374620.4:p.Ala283Val
ENST00000488442.1:n.1638C>T
NM_000106.5:c.914C>T	NP_000097.3:p.Ala305Val
NM_001025161.2:c.761C>T	NP_001020332.2:p.Ala254Val
XM_011529966.1:c.914C>T	XP_011528268.1:p.Ala305Val
XM_011529967.1:c.914C>T	XP_011528269.1:p.Ala305Val
XM_011529968.1:c.914C>T	XP_011528270.1:p.Ala305Val
XM_011529969.1:c.770C>T	XP_011528271.1:p.Ala257Val
XM_011529970.1:c.761C>T	XP_011528272.1:p.Ala254Val
XM_011529971.1:c.770C>T	XP_011528273.1:p.Ala257Val
XM_011529972.1:c.843+261C>T	XP_011528274.1:n.843+261C>T
NM_000106.6:c.914C>T MANE Select	NP_000097.3:p.Ala305Val
NM_001025161.3:c.761C>T	NP_001020332.2:p.Ala254Val