Canonical Allele Identifier: CA411769823

Gene: CYP2D6

Linked Data

• MyVariant Identifiers: chr22:g.42522616A>G (hg19) ; chr22:g.42126614A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42126614A>G , CM000684.2:g.42126614A>G	GRCh38
NC_000022.10:g.42522616A>G , CM000684.1:g.42522616A>G	GRCh37
NC_000022.9:g.40852560A>G	NCBI36
NG_008376.3:g.8378T>C
NG_008376.4:g.9197T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360124.10:c.1252T>C	ENSP00000353241.6:n.1252T>C
ENST00000645361.2:c.1454T>C MANE Select	ENSP00000496150.1:p.Val485Ala
ENST00000359033.4:c.1301T>C	ENSP00000351927.4:p.Val434Ala
ENST00000360124.9:c.1072T>C	ENSP00000353241.5:n.1072T>C
ENST00000360608.9:c.1454T>C	ENSP00000353820.5:p.Val485Ala
ENST00000389970.7:c.1445T>C	ENSP00000374620.4:p.Val482Ala
ENST00000488442.1:n.2178T>C
NM_000106.5:c.1454T>C	NP_000097.3:p.Val485Ala
NM_001025161.2:c.1301T>C	NP_001020332.2:p.Val434Ala
XM_011529966.1:c.1452+2T>C	XP_011528268.1:n.1452+2T>C
XM_011529967.1:c.1452+2T>C	XP_011528269.1:n.1452+2T>C
XM_011529968.1:c.1452+2T>C	XP_011528270.1:n.1452+2T>C
XM_011529969.1:c.1308+2T>C	XP_011528271.1:n.1308+2T>C
XM_011529970.1:c.1299+2T>C	XP_011528272.1:n.1299+2T>C
XM_011529971.1:c.1310T>C	XP_011528273.1:p.Val437Ala
NM_000106.6:c.1454T>C MANE Select	NP_000097.3:p.Val485Ala
NM_001025161.3:c.1301T>C	NP_001020332.2:p.Val434Ala