Canonical Allele Identifier: CA10264757

Gene: CYP2D6

Linked Data

• dbSNP Id: rs28371724
• ExAC: 22:42523857 A / G
• gnomAD v2: 22-42523857-A-G
• gnomAD v3: 22-42127855-A-G
• gnomAD v4: 22-42127855-A-G
• MyVariant Identifiers: chr22:g.42523857A>G (hg19) ; chr22:g.42127855A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42127855A>G , CM000684.2:g.42127855A>G	GRCh38
NC_000022.10:g.42523857A>G , CM000684.1:g.42523857A>G	GRCh37
NC_000022.9:g.40853801A>G	NCBI36
NG_008376.3:g.7137T>C
NG_008376.4:g.7956T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360124.10:c.770T>C	ENSP00000353241.6:n.770T>C
ENST00000645361.2:c.972T>C MANE Select	ENSP00000496150.1:p.His324=
ENST00000359033.4:c.819T>C	ENSP00000351927.4:p.His273=
ENST00000360124.9:c.590T>C	ENSP00000353241.5:n.590T>C
ENST00000360608.9:c.972T>C	ENSP00000353820.5:p.His324=
ENST00000389970.7:c.906T>C	ENSP00000374620.4:p.His302=
ENST00000488442.1:n.1696T>C
NM_000106.5:c.972T>C	NP_000097.3:p.His324=
NM_001025161.2:c.819T>C	NP_001020332.2:p.His273=
XM_011529966.1:c.972T>C	XP_011528268.1:p.His324=
XM_011529967.1:c.972T>C	XP_011528269.1:p.His324=
XM_011529968.1:c.972T>C	XP_011528270.1:p.His324=
XM_011529969.1:c.828T>C	XP_011528271.1:p.His276=
XM_011529970.1:c.819T>C	XP_011528272.1:p.His273=
XM_011529971.1:c.828T>C	XP_011528273.1:p.His276=
XM_011529972.1:c.844-221T>C	XP_011528274.1:n.844-221T>C
NM_000106.6:c.972T>C MANE Select	NP_000097.3:p.His324=
NM_001025161.3:c.819T>C	NP_001020332.2:p.His273=