Canonical Allele Identifier: CA411774827

Gene: CYP2D6

Linked Data

• gnomAD v4: 22-42129177-G-C
• MyVariant Identifiers: chr22:g.42525179G>C (hg19) ; chr22:g.42129177G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42129177G>C , CM000684.2:g.42129177G>C	GRCh38
NC_000022.10:g.42525179G>C , CM000684.1:g.42525179G>C	GRCh37
NC_000022.9:g.40855123G>C	NCBI36
NG_008376.3:g.5815C>G
NG_008376.4:g.6634C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.353-233C>G	ENSP00000353241.6:n.353-233C>G
ENST00000645361.2:c.361C>G MANE Select	ENSP00000496150.1:p.Leu121Val
ENST00000359033.4:c.353-233C>G	ENSP00000351927.4:n.353-233C>G
ENST00000360124.9:c.173-233C>G	ENSP00000353241.5:n.173-233C>G
ENST00000360608.9:c.361C>G	ENSP00000353820.5:p.Leu121Val
ENST00000389970.7:c.295C>G	ENSP00000374620.4:p.Leu99Val
ENST00000488442.1:n.1085C>G
NM_000106.5:c.361C>G	NP_000097.3:p.Leu121Val
NM_001025161.2:c.353-233C>G	NP_001020332.2:n.353-233C>G
XM_011529966.1:c.361C>G	XP_011528268.1:p.Leu121Val
XM_011529967.1:c.361C>G	XP_011528269.1:p.Leu121Val
XM_011529968.1:c.361C>G	XP_011528270.1:p.Leu121Val
XM_011529969.1:c.218C>G	XP_011528271.1:p.Pro73Arg
XM_011529970.1:c.353-233C>G	XP_011528272.1:n.353-233C>G
XM_011529971.1:c.218C>G	XP_011528273.1:p.Pro73Arg
XM_011529972.1:c.361C>G	XP_011528274.1:p.Leu121Val
NM_000106.6:c.361C>G MANE Select	NP_000097.3:p.Leu121Val
NM_001025161.3:c.353-233C>G	NP_001020332.2:n.353-233C>G