Canonical Allele Identifier: CA114447
Gene: NAT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 722
ClinVar RCV Id: RCV000000758
dbSNP Id: rs1799930
ExAC: 8:18258103 G / A
gnomAD v2: 8-18258103-G-A
gnomAD v3: 8-18400593-G-A
gnomAD v4: 8-18400593-G-A
MyVariant Identifiers: chr8:g.18258103G>A (hg19) chr8:g.18400593G>A (hg38)
PubMed: PMID:2068113 PMID:18043717 PMID:18421452 PMID:19891553 PMID:21856096 PMID:22506592 PMID:22992668
Allelic Epigenome: Alellic Epigenome (raw data)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400593G>A , CM000670.2:g.18400593G>A GRCh38
NC_000008.10:g.18258103G>A , CM000670.1:g.18258103G>A GRCh37
NC_000008.9:g.18302383G>A NCBI36
NG_012246.1:g.14349G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000286479.4:c.590G>A MANE Select ENSP00000286479.3:p.Arg197Gln
ENST00000286479.3:c.590G>A ENSP00000286479.3:p.Arg197Gln
ENST00000520116.1:c.200G>A ENSP00000428416.1:p.Arg67Gln
NM_000015.2:c.590G>A NP_000006.2:p.Arg197Gln
XM_011544358.1:c.590G>A XP_011542660.1:p.Arg197Gln
XM_017012938.1:c.590G>A XP_016868427.1:p.Arg197Gln
NM_000015.3:c.590G>A MANE Select NP_000006.2:p.Arg197Gln
Search 100 bp 5'
Search 100 bp 3'