Canonical Allele Identifier: CA411772360

Gene: CYP2D6

Linked Data

• MyVariant Identifiers: chr22:g.42523850C>G (hg19) ; chr22:g.42127848C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42127848C>G , CM000684.2:g.42127848C>G	GRCh38
NC_000022.10:g.42523850C>G , CM000684.1:g.42523850C>G	GRCh37
NC_000022.9:g.40853794C>G	NCBI36
NG_008376.3:g.7144G>C
NG_008376.4:g.7963G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360124.10:c.777G>C	ENSP00000353241.6:n.777G>C
ENST00000645361.2:c.979G>C MANE Select	ENSP00000496150.1:p.Val327Leu
ENST00000359033.4:c.826G>C	ENSP00000351927.4:p.Val276Leu
ENST00000360124.9:c.597G>C	ENSP00000353241.5:n.597G>C
ENST00000360608.9:c.979G>C	ENSP00000353820.5:p.Val327Leu
ENST00000389970.7:c.913G>C	ENSP00000374620.4:p.Val305Leu
ENST00000488442.1:n.1703G>C
NM_000106.5:c.979G>C	NP_000097.3:p.Val327Leu
NM_001025161.2:c.826G>C	NP_001020332.2:p.Val276Leu
XM_011529966.1:c.979G>C	XP_011528268.1:p.Val327Leu
XM_011529967.1:c.979G>C	XP_011528269.1:p.Val327Leu
XM_011529968.1:c.979G>C	XP_011528270.1:p.Val327Leu
XM_011529969.1:c.835G>C	XP_011528271.1:p.Val279Leu
XM_011529970.1:c.826G>C	XP_011528272.1:p.Val276Leu
XM_011529971.1:c.835G>C	XP_011528273.1:p.Val279Leu
XM_011529972.1:c.844-214G>C	XP_011528274.1:n.844-214G>C
NM_000106.6:c.979G>C MANE Select	NP_000097.3:p.Val327Leu
NM_001025161.3:c.826G>C	NP_001020332.2:p.Val276Leu