Canonical Allele Identifier: CA370635504
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1172380462
gnomAD v2: 8-18257776-T-C
gnomAD v4: 8-18400266-T-C
MyVariant Identifiers: chr8:g.18257776T>C (hg19) chr8:g.18400266T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400266T>C , CM000670.2:g.18400266T>C GRCh38
NC_000008.10:g.18257776T>C , CM000670.1:g.18257776T>C GRCh37
NC_000008.9:g.18302056T>C NCBI36
NG_012246.1:g.14022T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.263T>C MANE Select ENSP00000286479.3:p.Met88Thr
ENST00000286479.3:c.263T>C ENSP00000286479.3:p.Met88Thr
ENST00000520116.1:c.-57-71T>C ENSP00000428416.1:n.-57-71T>C
NM_000015.2:c.263T>C NP_000006.2:p.Met88Thr
XM_011544358.1:c.263T>C XP_011542660.1:p.Met88Thr
XM_017012938.1:c.263T>C XP_016868427.1:p.Met88Thr
NM_000015.3:c.263T>C MANE Select NP_000006.2:p.Met88Thr
Search 100 bp 5'
Search 100 bp 3'