Canonical Allele Identifier: CA4651704
Gene: NAT2 HGNC NCBI
COSMIC:
COSM4998006 (not active)
MyVariant.info:
GRCh38 chr8:g.18400806G>A
GRCh37 chr8:g.18258316G>A
Revel Score:
ENST00000286479 (MANE Select) 0.041
ENST00000520116 0.041
gnomAD v2:
8:18258316 G / A
gnomAD v3:
8:18400806 G / A
gnomAD v4:
chr8-18400806-G-A
Joint Max Group AF 0.95649762 (EAS)
Genomes Max Group AF 0.93764805 (EAS)
Exomes Max Group AF 0.95654576 (EAS)
ClinVar RCV:
RCV003979775
ClinVar Variation:
3059207
dbSNP:
1208
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400806G>A , CM000670.2:g.18400806G>A GRCh38
NC_000008.10:g.18258316G>A , CM000670.1:g.18258316G>A GRCh37
NC_000008.9:g.18302596G>A NCBI36
NG_012246.1:g.14562G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.803G>A MANE Select ENSP00000286479.3:p.Arg268Lys
ENST00000286479.3:c.803G>A ENSP00000286479.3:p.Arg268Lys
ENST00000520116.1:c.413G>A ENSP00000428416.1:p.Arg138Lys
NM_000015.2:c.803G>A NP_000006.2:p.Arg268Lys
XM_011544358.1:c.803G>A XP_011542660.1:p.Arg268Lys
XM_017012938.1:c.803G>A XP_016868427.1:p.Arg268Lys
NM_000015.3:c.803G>A MANE Select NP_000006.2:p.Arg268Lys
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