Canonical Allele Identifier: CA370636714
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1434541633
gnomAD v2: 8-18258343-G-A
gnomAD v4: 8-18400833-G-A
MyVariant Identifiers: chr8:g.18258343G>A (hg19) chr8:g.18400833G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400833G>A , CM000670.2:g.18400833G>A GRCh38
NC_000008.10:g.18258343G>A , CM000670.1:g.18258343G>A GRCh37
NC_000008.9:g.18302623G>A NCBI36
NG_012246.1:g.14589G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.830G>A MANE Select ENSP00000286479.3:p.Arg277Lys
ENST00000286479.3:c.830G>A ENSP00000286479.3:p.Arg277Lys
ENST00000520116.1:c.440G>A ENSP00000428416.1:p.Arg147Lys
NM_000015.2:c.830G>A NP_000006.2:p.Arg277Lys
XM_011544358.1:c.830G>A XP_011542660.1:p.Arg277Lys
XM_017012938.1:c.830G>A XP_016868427.1:p.Arg277Lys
NM_000015.3:c.830G>A MANE Select NP_000006.2:p.Arg277Lys
Search 100 bp 5'
Search 100 bp 3'