Canonical Allele Identifier: CA10265117

Gene: CYP2D6

Linked Data

• dbSNP Id: rs78482768
• ExAC: 22:42525089 G / C
• gnomAD v2: 22-42525089-G-C
• gnomAD v3: 22-42129087-G-C
• gnomAD v4: 22-42129087-G-C
• MyVariant Identifiers: chr22:g.42525089G>C (hg19) ; chr22:g.42129087G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42129087G>C , CM000684.2:g.42129087G>C	GRCh38
NC_000022.10:g.42525089G>C , CM000684.1:g.42525089G>C	GRCh37
NC_000022.9:g.40855033G>C	NCBI36
NG_008376.3:g.5905C>G
NG_008376.4:g.6724C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000360124.10:c.353-143C>G	ENSP00000353241.6:n.353-143C>G
ENST00000645361.2:c.451C>G MANE Select	ENSP00000496150.1:p.Gln151Glu
ENST00000359033.4:c.353-143C>G	ENSP00000351927.4:n.353-143C>G
ENST00000360124.9:c.173-143C>G	ENSP00000353241.5:n.173-143C>G
ENST00000360608.9:c.451C>G	ENSP00000353820.5:p.Gln151Glu
ENST00000389970.7:c.385C>G	ENSP00000374620.4:p.Gln129Glu
ENST00000488442.1:n.1175C>G
NM_000106.5:c.451C>G	NP_000097.3:p.Gln151Glu
NM_001025161.2:c.353-143C>G	NP_001020332.2:n.353-143C>G
XM_011529966.1:c.451C>G	XP_011528268.1:p.Gln151Glu
XM_011529967.1:c.451C>G	XP_011528269.1:p.Gln151Glu
XM_011529968.1:c.451C>G	XP_011528270.1:p.Gln151Glu
XM_011529969.1:c.308C>G	XP_011528271.1:p.Ala103Gly
XM_011529970.1:c.353-143C>G	XP_011528272.1:n.353-143C>G
XM_011529971.1:c.308C>G	XP_011528273.1:p.Ala103Gly
XM_011529972.1:c.451C>G	XP_011528274.1:p.Gln151Glu
NM_000106.6:c.451C>G MANE Select	NP_000097.3:p.Gln151Glu
NM_001025161.3:c.353-143C>G	NP_001020332.2:n.353-143C>G