Canonical Allele Identifier: CA411772769

Gene: CYP2D6

Linked Data

• gnomAD v4: 22-42127932-C-T
• MyVariant Identifiers: chr22:g.42523934C>T (hg19) ; chr22:g.42127932C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42127932C>T , CM000684.2:g.42127932C>T	GRCh38
NC_000022.10:g.42523934C>T , CM000684.1:g.42523934C>T	GRCh37
NC_000022.9:g.40853878C>T	NCBI36
NG_008376.3:g.7060G>A
NG_008376.4:g.7879G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360124.10:c.693G>A	ENSP00000353241.6:p.Trp231Ter
ENST00000645361.2:c.895G>A MANE Select	ENSP00000496150.1:p.Val299Met
ENST00000359033.4:c.742G>A	ENSP00000351927.4:p.Val248Met
ENST00000360124.9:c.513G>A	ENSP00000353241.5:p.Trp171Ter
ENST00000360608.9:c.895G>A	ENSP00000353820.5:p.Val299Met
ENST00000389970.7:c.829G>A	ENSP00000374620.4:p.Val277Met
ENST00000488442.1:n.1619G>A
NM_000106.5:c.895G>A	NP_000097.3:p.Val299Met
NM_001025161.2:c.742G>A	NP_001020332.2:p.Val248Met
XM_011529966.1:c.895G>A	XP_011528268.1:p.Val299Met
XM_011529967.1:c.895G>A	XP_011528269.1:p.Val299Met
XM_011529968.1:c.895G>A	XP_011528270.1:p.Val299Met
XM_011529969.1:c.751G>A	XP_011528271.1:p.Val251Met
XM_011529970.1:c.742G>A	XP_011528272.1:p.Val248Met
XM_011529971.1:c.751G>A	XP_011528273.1:p.Val251Met
XM_011529972.1:c.843+242G>A	XP_011528274.1:n.843+242G>A
NM_000106.6:c.895G>A MANE Select	NP_000097.3:p.Val299Met
NM_001025161.3:c.742G>A	NP_001020332.2:p.Val248Met