Canonical Allele Identifier: CA14689507
Gene: CYP2A6 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.40847202T>C
GRCh37 chr19:g.41353107T>C
gnomAD v2:
19:41353107 T / C
gnomAD v3:
19:40847202 T / C
gnomAD v4:
chr19-40847202-T-C
Joint Max Group AF 0.58646093 (AMR)
Genomes Max Group AF 0.57652663 (NFE)
Exomes Max Group AF 0.59125026 (AMR)
dbSNP:
56113850
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40847202T>C , CM000681.2:g.40847202T>C GRCh38
NC_000019.9:g.41353107T>C , CM000681.1:g.41353107T>C GRCh37
NC_000019.8:g.46044947T>C NCBI36
NG_008377.1:g.8246A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301141.10:c.655-151A>G MANE Select ENSP00000301141.4:n.655-151A>G
ENST00000301141.9:c.655-151A>G ENSP00000301141.4:n.655-151A>G
ENST00000596719.5:n.506-151A>G
ENST00000600495.1:c.*467-151A>G ENSP00000472905.1:n.*467-151A>G
ENST00000601627.1:c.120-44789T>C
ENST00000610301.1:c.655-151A>G ENSP00000477899.1:n.655-151A>G
NM_000762.5:c.655-151A>G NP_000753.3:n.655-151A>G
NM_000762.6:c.655-151A>G MANE Select NP_000753.3:n.655-151A>G
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