Canonical Allele Identifier: CA411769751

Gene: CYP2D6

Linked Data

• MyVariant Identifiers: chr22:g.42522578A>C (hg19) ; chr22:g.42126576A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42126576A>C , CM000684.2:g.42126576A>C	GRCh38
NC_000022.10:g.42522578A>C , CM000684.1:g.42522578A>C	GRCh37
NC_000022.9:g.40852522A>C	NCBI36
NG_008376.3:g.8416T>G
NG_008376.4:g.9235T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.1290T>G	ENSP00000353241.6:n.1290T>G
ENST00000645361.2:c.1492T>G MANE Select	ENSP00000496150.1:p.Ter498Glu
ENST00000359033.4:c.1339T>G	ENSP00000351927.4:p.Ter447Glu
ENST00000360124.9:c.1110T>G	ENSP00000353241.5:n.1110T>G
ENST00000360608.9:c.1492T>G	ENSP00000353820.5:p.Ter498Glu
ENST00000389970.7:c.1483T>G	ENSP00000374620.4:p.Ter495Glu
ENST00000488442.1:n.2216T>G
NM_000106.5:c.1492T>G	NP_000097.3:p.Ter498Glu
NM_001025161.2:c.1339T>G	NP_001020332.2:p.Ter447Glu
XM_011529966.1:c.1452+40T>G	XP_011528268.1:n.1452+40T>G
XM_011529967.1:c.1452+40T>G	XP_011528269.1:n.1452+40T>G
XM_011529968.1:c.1452+40T>G	XP_011528270.1:n.1452+40T>G
XM_011529969.1:c.1308+40T>G	XP_011528271.1:n.1308+40T>G
XM_011529970.1:c.1299+40T>G	XP_011528272.1:n.1299+40T>G
XM_011529971.1:c.1348T>G	XP_011528273.1:p.Ter450Glu
NM_000106.6:c.1492T>G MANE Select	NP_000097.3:p.Ter498Glu
NM_001025161.3:c.1339T>G	NP_001020332.2:p.Ter447Glu