Canonical Allele Identifier: CA9453094
Gene: CYP2A6 HGNC NCBI

Linked Data

dbSNP Id: rs60605885
ExAC: 19:41354538 G / C
gnomAD v2: 19-41354538-G-C
gnomAD v3: 19-40848633-G-C
gnomAD v4: 19-40848633-G-C
COSMIC: COSM1393905
MyVariant Identifiers: chr19:g.41354538G>C (hg19) chr19:g.40848633G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40848633G>C , CM000681.2:g.40848633G>C GRCh38
NC_000019.9:g.41354538G>C , CM000681.1:g.41354538G>C GRCh37
NC_000019.8:g.46046378G>C NCBI36
NG_008377.1:g.6815C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000301141.10:c.474C>G MANE Select ENSP00000301141.4:p.Asp158Glu
ENST00000301141.9:c.474C>G ENSP00000301141.4:p.Asp158Glu
ENST00000596719.5:n.325C>G
ENST00000600495.1:c.*286C>G ENSP00000472905.1:n.*286C>G
ENST00000601627.1:c.120-43358G>C
ENST00000610301.1:c.474C>G ENSP00000477899.1:p.Asp158Glu
NM_000762.5:c.474C>G NP_000753.3:p.Asp158Glu
NM_000762.6:c.474C>G MANE Select NP_000753.3:p.Asp158Glu
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