Canonical Allele Identifier: CA411772765

Gene: CYP2D6

Linked Data

• MyVariant Identifiers: chr22:g.42523933A>C (hg19) ; chr22:g.42127931A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42127931A>C , CM000684.2:g.42127931A>C	GRCh38
NC_000022.10:g.42523933A>C , CM000684.1:g.42523933A>C	GRCh37
NC_000022.9:g.40853877A>C	NCBI36
NG_008376.3:g.7061T>G
NG_008376.4:g.7880T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.694T>G	ENSP00000353241.6:p.Trp232Gly
ENST00000645361.2:c.896T>G MANE Select	ENSP00000496150.1:p.Val299Gly
ENST00000359033.4:c.743T>G	ENSP00000351927.4:p.Val248Gly
ENST00000360124.9:c.514T>G	ENSP00000353241.5:p.Trp172Gly
ENST00000360608.9:c.896T>G	ENSP00000353820.5:p.Val299Gly
ENST00000389970.7:c.830T>G	ENSP00000374620.4:p.Val277Gly
ENST00000488442.1:n.1620T>G
NM_000106.5:c.896T>G	NP_000097.3:p.Val299Gly
NM_001025161.2:c.743T>G	NP_001020332.2:p.Val248Gly
XM_011529966.1:c.896T>G	XP_011528268.1:p.Val299Gly
XM_011529967.1:c.896T>G	XP_011528269.1:p.Val299Gly
XM_011529968.1:c.896T>G	XP_011528270.1:p.Val299Gly
XM_011529969.1:c.752T>G	XP_011528271.1:p.Val251Gly
XM_011529970.1:c.743T>G	XP_011528272.1:p.Val248Gly
XM_011529971.1:c.752T>G	XP_011528273.1:p.Val251Gly
XM_011529972.1:c.843+243T>G	XP_011528274.1:n.843+243T>G
NM_000106.6:c.896T>G MANE Select	NP_000097.3:p.Val299Gly
NM_001025161.3:c.743T>G	NP_001020332.2:p.Val248Gly