Canonical Allele Identifier: CA514699619

Gene: CYP2D6

Linked Data

• gnomAD v4: 22-42129181-C-A
• MyVariant Identifiers: chr22:g.42525183C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42129181C>A , CM000684.2:g.42129181C>A	GRCh38
NC_000022.10:g.42525183C>A , CM000684.1:g.42525183C>A	GRCh37
NC_000022.9:g.40855127C>A	NCBI36
NG_008376.3:g.5811G>T
NG_008376.4:g.6630G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.353-237G>T	ENSP00000353241.6:n.353-237G>T
ENST00000645361.2:c.357G>T MANE Select	ENSP00000496150.1:p.Val119=
ENST00000359033.4:c.353-237G>T	ENSP00000351927.4:n.353-237G>T
ENST00000360124.9:c.173-237G>T	ENSP00000353241.5:n.173-237G>T
ENST00000360608.9:c.357G>T	ENSP00000353820.5:p.Val119=
ENST00000389970.7:c.291G>T	ENSP00000374620.4:p.Val97=
ENST00000488442.1:n.1081G>T
NM_000106.5:c.357G>T	NP_000097.3:p.Val119=
NM_001025161.2:c.353-237G>T	NP_001020332.2:n.353-237G>T
XM_011529966.1:c.357G>T	XP_011528268.1:p.Val119=
XM_011529967.1:c.357G>T	XP_011528269.1:p.Val119=
XM_011529968.1:c.357G>T	XP_011528270.1:p.Val119=
XM_011529969.1:c.214G>T	XP_011528271.1:p.Val72Phe
XM_011529970.1:c.353-237G>T	XP_011528272.1:n.353-237G>T
XM_011529971.1:c.214G>T	XP_011528273.1:p.Val72Phe
XM_011529972.1:c.357G>T	XP_011528274.1:p.Val119=
NM_000106.6:c.357G>T MANE Select	NP_000097.3:p.Val119=
NM_001025161.3:c.353-237G>T	NP_001020332.2:n.353-237G>T