Canonical Allele Identifier: CA10264554

Gene: CYP2D6

Linked Data

• dbSNP Id: rs569439709
• ExAC: 22:42522754 C / T
• gnomAD v2: 22-42522754-C-T
• gnomAD v3: 22-42126752-C-T
• gnomAD v4: 22-42126752-C-T
• MyVariant Identifiers: chr22:g.42522754C>T (hg19) ; chr22:g.42126752C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42126752C>T , CM000684.2:g.42126752C>T	GRCh38
NC_000022.10:g.42522754C>T , CM000684.1:g.42522754C>T	GRCh37
NC_000022.9:g.40852698C>T	NCBI36
NG_008376.3:g.8240G>A
NG_008376.4:g.9059G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000360124.10:c.1114G>A	ENSP00000353241.6:n.1114G>A
ENST00000645361.2:c.1316G>A MANE Select	ENSP00000496150.1:p.Gly439Asp
ENST00000359033.4:c.1163G>A	ENSP00000351927.4:p.Gly388Asp
ENST00000360124.9:c.934G>A	ENSP00000353241.5:n.934G>A
ENST00000360608.9:c.1316G>A	ENSP00000353820.5:p.Gly439Asp
ENST00000389970.7:c.1307G>A	ENSP00000374620.4:p.Gly436Asp
ENST00000488442.1:n.2040G>A
NM_000106.5:c.1316G>A	NP_000097.3:p.Gly439Asp
NM_001025161.2:c.1163G>A	NP_001020332.2:p.Gly388Asp
XM_011529966.1:c.1316G>A	XP_011528268.1:p.Gly439Asp
XM_011529967.1:c.1316G>A	XP_011528269.1:p.Gly439Asp
XM_011529968.1:c.1316G>A	XP_011528270.1:p.Gly439Asp
XM_011529969.1:c.1172G>A	XP_011528271.1:p.Gly391Asp
XM_011529970.1:c.1163G>A	XP_011528272.1:p.Gly388Asp
XM_011529971.1:c.1172G>A	XP_011528273.1:p.Gly391Asp
NM_000106.6:c.1316G>A MANE Select	NP_000097.3:p.Gly439Asp
NM_001025161.3:c.1163G>A	NP_001020332.2:p.Gly388Asp