Canonical Allele Identifier: CA215129
Gene: CYP2A6 HGNC NCBI

Linked Data

ClinVar Variation Id: 16969
dbSNP Id: rs1801272

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40848628A>T , CM000681.2:g.40848628A>T GRCh38
NC_000019.9:g.41354533A>T , CM000681.1:g.41354533A>T GRCh37
NC_000019.8:g.46046373A>T NCBI36
NG_008377.1:g.6820T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000301141.10:c.479T>A MANE Select ENSP00000301141.4:p.Leu160His
ENST00000301141.9:c.479T>A ENSP00000301141.4:p.Leu160His
ENST00000596719.5:n.330T>A
ENST00000600495.1:c.*291T>A ENSP00000472905.1:n.*291T>A
ENST00000601627.1:c.120-43363A>T
ENST00000610301.1:c.479T>A ENSP00000477899.1:p.Leu160His
NM_000762.5:c.479T>A NP_000753.3:p.Leu160His
NM_000762.6:c.479T>A MANE Select NP_000753.3:p.Leu160His