Canonical Allele Identifier: CA459700088
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1199681082
gnomAD v2: 8-18258362-T-C
gnomAD v4: 8-18400852-T-C
MyVariant Identifiers: chr8:g.18258362T>C (hg19) chr8:g.18400852T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400852T>C , CM000670.2:g.18400852T>C GRCh38
NC_000008.10:g.18258362T>C , CM000670.1:g.18258362T>C GRCh37
NC_000008.9:g.18302642T>C NCBI36
NG_012246.1:g.14608T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.849T>C MANE Select ENSP00000286479.3:p.Pro283=
ENST00000286479.3:c.849T>C ENSP00000286479.3:p.Pro283=
ENST00000520116.1:c.459T>C ENSP00000428416.1:p.Pro153=
NM_000015.2:c.849T>C NP_000006.2:p.Pro283=
XM_011544358.1:c.849T>C XP_011542660.1:p.Pro283=
XM_017012938.1:c.849T>C XP_016868427.1:p.Pro283=
NM_000015.3:c.849T>C MANE Select NP_000006.2:p.Pro283=
Search 100 bp 5'
Search 100 bp 3'