Canonical Allele Identifier: CA459699258
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs779874333
gnomAD v2: 8-18257651-A-G
gnomAD v4: 8-18400141-A-G
MyVariant Identifiers: chr8:g.18257651A>G (hg19) chr8:g.18400141A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400141A>G , CM000670.2:g.18400141A>G GRCh38
NC_000008.10:g.18257651A>G , CM000670.1:g.18257651A>G GRCh37
NC_000008.9:g.18301931A>G NCBI36
NG_012246.1:g.13897A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.138A>G MANE Select ENSP00000286479.3:p.Gln46=
ENST00000286479.3:c.138A>G ENSP00000286479.3:p.Gln46=
ENST00000520116.1:c.-57-196A>G ENSP00000428416.1:n.-57-196A>G
NM_000015.2:c.138A>G NP_000006.2:p.Gln46=
XM_011544358.1:c.138A>G XP_011542660.1:p.Gln46=
XM_017012938.1:c.138A>G XP_016868427.1:p.Gln46=
NM_000015.3:c.138A>G MANE Select NP_000006.2:p.Gln46=
Search 100 bp 5'
Search 100 bp 3'