Canonical Allele Identifier: CA215131
Gene: CYP2A6 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.40847036A>G
GRCh37 chr19:g.41352941A>G
Revel Score:
ENST00000301141 (MANE Select) 0.073
gnomAD v2:
19:41352941 A / G
gnomAD v3:
19:40847036 A / G
gnomAD v4:
chr19-40847036-A-G
Joint Max Group AF 0.01121438 (EAS)
Genomes Max Group AF 0.00763468 (EAS)
Exomes Max Group AF 0.0114414 (EAS)
ClinVar RCV:
RCV000018488
ClinVar Variation:
16971
dbSNP:
28399447
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40847036A>G , CM000681.2:g.40847036A>G GRCh38
NC_000019.9:g.41352941A>G , CM000681.1:g.41352941A>G GRCh37
NC_000019.8:g.46044781A>G NCBI36
NG_008377.1:g.8412T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301141.10:c.670T>C MANE Select ENSP00000301141.4:p.Ser224Pro
ENST00000301141.9:c.670T>C ENSP00000301141.4:p.Ser224Pro
ENST00000596719.5:n.521T>C
ENST00000600495.1:c.*482T>C ENSP00000472905.1:n.*482T>C
ENST00000601627.1:c.120-44955A>G
ENST00000610301.1:c.670T>C ENSP00000477899.1:p.Ser224Pro
NM_000762.5:c.670T>C NP_000753.3:p.Ser224Pro
NM_000762.6:c.670T>C MANE Select NP_000753.3:p.Ser224Pro
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