Canonical Allele Identifier: CA173519947
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs910738034
gnomAD v2: 8-18258315-A-G
gnomAD v4: 8-18400805-A-G
MyVariant Identifiers: chr8:g.18258315A>G (hg19) chr8:g.18400805A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400805A>G , CM000670.2:g.18400805A>G GRCh38
NC_000008.10:g.18258315A>G , CM000670.1:g.18258315A>G GRCh37
NC_000008.9:g.18302595A>G NCBI36
NG_012246.1:g.14561A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.802A>G MANE Select ENSP00000286479.3:p.Arg268Gly
ENST00000286479.3:c.802A>G ENSP00000286479.3:p.Arg268Gly
ENST00000520116.1:c.412A>G ENSP00000428416.1:p.Arg138Gly
NM_000015.2:c.802A>G NP_000006.2:p.Arg268Gly
XM_011544358.1:c.802A>G XP_011542660.1:p.Arg268Gly
XM_017012938.1:c.802A>G XP_016868427.1:p.Arg268Gly
NM_000015.3:c.802A>G MANE Select NP_000006.2:p.Arg268Gly
Search 100 bp 5'
Search 100 bp 3'