Canonical Allele Identifier: CA173519061
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs543466404
gnomAD v2: 8-18251051-C-G
gnomAD v3: 8-18393541-C-G
gnomAD v4: 8-18393541-C-G
MyVariant Identifiers: chr8:g.18251051C>G (hg19) chr8:g.18393541C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18393541C>G , CM000670.2:g.18393541C>G GRCh38
NC_000008.10:g.18251051C>G , CM000670.1:g.18251051C>G GRCh37
NC_000008.9:g.18295331C>G NCBI36
NG_012246.1:g.7297C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.-7+2196C>G MANE Select ENSP00000286479.3:n.-7+2196C>G
ENST00000286479.3:c.-7+2196C>G ENSP00000286479.3:n.-7+2196C>G
ENST00000520116.1:c.-58+2196C>G ENSP00000428416.1:n.-58+2196C>G
NM_000015.2:c.-7+2196C>G NP_000006.2:n.-7+2196C>G
XM_011544358.1:c.-7+805C>G XP_011542660.1:n.-7+805C>G
XM_017012938.1:c.-6-6457C>G XP_016868427.1:n.-6-6457C>G
NM_000015.3:c.-7+2196C>G MANE Select NP_000006.2:n.-7+2196C>G
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