Canonical Allele Identifier: CA10264784

Gene: CYP2D6

Linked Data

• dbSNP Id: rs771422993
• ExAC: 22:42523934 C / A
• gnomAD v2: 22-42523934-C-A
• gnomAD v3: 22-42127932-C-A
• gnomAD v4: 22-42127932-C-A
• MyVariant Identifiers: chr22:g.42523934C>A (hg19) ; chr22:g.42127932C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42127932C>A , CM000684.2:g.42127932C>A	GRCh38
NC_000022.10:g.42523934C>A , CM000684.1:g.42523934C>A	GRCh37
NC_000022.9:g.40853878C>A	NCBI36
NG_008376.3:g.7060G>T
NG_008376.4:g.7879G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.693G>T	ENSP00000353241.6:p.Trp231Cys
ENST00000645361.2:c.895G>T MANE Select	ENSP00000496150.1:p.Val299Leu
ENST00000359033.4:c.742G>T	ENSP00000351927.4:p.Val248Leu
ENST00000360124.9:c.513G>T	ENSP00000353241.5:p.Trp171Cys
ENST00000360608.9:c.895G>T	ENSP00000353820.5:p.Val299Leu
ENST00000389970.7:c.829G>T	ENSP00000374620.4:p.Val277Leu
ENST00000488442.1:n.1619G>T
NM_000106.5:c.895G>T	NP_000097.3:p.Val299Leu
NM_001025161.2:c.742G>T	NP_001020332.2:p.Val248Leu
XM_011529966.1:c.895G>T	XP_011528268.1:p.Val299Leu
XM_011529967.1:c.895G>T	XP_011528269.1:p.Val299Leu
XM_011529968.1:c.895G>T	XP_011528270.1:p.Val299Leu
XM_011529969.1:c.751G>T	XP_011528271.1:p.Val251Leu
XM_011529970.1:c.742G>T	XP_011528272.1:p.Val248Leu
XM_011529971.1:c.751G>T	XP_011528273.1:p.Val251Leu
XM_011529972.1:c.843+242G>T	XP_011528274.1:n.843+242G>T
NM_000106.6:c.895G>T MANE Select	NP_000097.3:p.Val299Leu
NM_001025161.3:c.742G>T	NP_001020332.2:p.Val248Leu