Canonical Allele Identifier: CA411772390

Gene: CYP2D6

Linked Data

• gnomAD v4: 22-42127855-A-C
• MyVariant Identifiers: chr22:g.42523857A>C (hg19) ; chr22:g.42127855A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42127855A>C , CM000684.2:g.42127855A>C	GRCh38
NC_000022.10:g.42523857A>C , CM000684.1:g.42523857A>C	GRCh37
NC_000022.9:g.40853801A>C	NCBI36
NG_008376.3:g.7137T>G
NG_008376.4:g.7956T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000360124.10:c.770T>G	ENSP00000353241.6:n.770T>G
ENST00000645361.2:c.972T>G MANE Select	ENSP00000496150.1:p.His324Gln
ENST00000359033.4:c.819T>G	ENSP00000351927.4:p.His273Gln
ENST00000360124.9:c.590T>G	ENSP00000353241.5:n.590T>G
ENST00000360608.9:c.972T>G	ENSP00000353820.5:p.His324Gln
ENST00000389970.7:c.906T>G	ENSP00000374620.4:p.His302Gln
ENST00000488442.1:n.1696T>G
NM_000106.5:c.972T>G	NP_000097.3:p.His324Gln
NM_001025161.2:c.819T>G	NP_001020332.2:p.His273Gln
XM_011529966.1:c.972T>G	XP_011528268.1:p.His324Gln
XM_011529967.1:c.972T>G	XP_011528269.1:p.His324Gln
XM_011529968.1:c.972T>G	XP_011528270.1:p.His324Gln
XM_011529969.1:c.828T>G	XP_011528271.1:p.His276Gln
XM_011529970.1:c.819T>G	XP_011528272.1:p.His273Gln
XM_011529971.1:c.828T>G	XP_011528273.1:p.His276Gln
XM_011529972.1:c.844-221T>G	XP_011528274.1:n.844-221T>G
NM_000106.6:c.972T>G MANE Select	NP_000097.3:p.His324Gln
NM_001025161.3:c.819T>G	NP_001020332.2:p.His273Gln