Canonical Allele Identifier: CA370635462
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1284492798
gnomAD v2: 8-18257752-C-G
gnomAD v4: 8-18400242-C-G
MyVariant Identifiers: chr8:g.18257752C>G (hg19) chr8:g.18400242C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400242C>G , CM000670.2:g.18400242C>G GRCh38
NC_000008.10:g.18257752C>G , CM000670.1:g.18257752C>G GRCh37
NC_000008.9:g.18302032C>G NCBI36
NG_012246.1:g.13998C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000286479.4:c.239C>G MANE Select ENSP00000286479.3:p.Thr80Ser
ENST00000286479.3:c.239C>G ENSP00000286479.3:p.Thr80Ser
ENST00000520116.1:c.-57-95C>G ENSP00000428416.1:n.-57-95C>G
NM_000015.2:c.239C>G NP_000006.2:p.Thr80Ser
XM_011544358.1:c.239C>G XP_011542660.1:p.Thr80Ser
XM_017012938.1:c.239C>G XP_016868427.1:p.Thr80Ser
NM_000015.3:c.239C>G MANE Select NP_000006.2:p.Thr80Ser
Search 100 bp 5'
Search 100 bp 3'