Canonical Allele Identifier: CA580185567
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1474062446
gnomAD v2: 8-18250994-A-G
gnomAD v3: 8-18393484-A-G
gnomAD v4: 8-18393484-A-G
MyVariant Identifiers: chr8:g.18250994A>G (hg19) chr8:g.18393484A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18393484A>G , CM000670.2:g.18393484A>G GRCh38
NC_000008.10:g.18250994A>G , CM000670.1:g.18250994A>G GRCh37
NC_000008.9:g.18295274A>G NCBI36
NG_012246.1:g.7240A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.-7+2139A>G MANE Select ENSP00000286479.3:n.-7+2139A>G
ENST00000286479.3:c.-7+2139A>G ENSP00000286479.3:n.-7+2139A>G
ENST00000520116.1:c.-58+2139A>G ENSP00000428416.1:n.-58+2139A>G
NM_000015.2:c.-7+2139A>G NP_000006.2:n.-7+2139A>G
XM_011544358.1:c.-7+748A>G XP_011542660.1:n.-7+748A>G
XM_017012938.1:c.-7+6448A>G XP_016868427.1:n.-7+6448A>G
NM_000015.3:c.-7+2139A>G MANE Select NP_000006.2:n.-7+2139A>G
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