Canonical Allele Identifier: CA405958757
Gene: CYP2A13 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.41089049C>G
GRCh37 chr19:g.41594954C>G
Revel Score:
ENST00000330436 (MANE Select) 0.261
gnomAD v2:
19:41594954 C / G
gnomAD v4:
chr19-41089049-C-G
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
dbSNP:
72552266
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41089049C>G , CM000681.2:g.41089049C>G GRCh38
NC_000019.9:g.41594954C>G , CM000681.1:g.41594954C>G GRCh37
NC_000019.8:g.46286794C>G NCBI36
NG_007928.1:g.5587C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000330436.4:c.301C>G MANE Select ENSP00000332679.1:p.Arg101Gly
ENST00000330436.3:c.301C>G ENSP00000332679.1:p.Arg101Gly
NM_000766.4:c.301C>G NP_000757.2:p.Arg101Gly
NM_000766.5:c.301C>G MANE Select NP_000757.2:p.Arg101Gly
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