Canonical Allele Identifier: CA580185578
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs923693589
gnomAD v2: 8-18251217-A-T
gnomAD v3: 8-18393707-A-T
gnomAD v4: 8-18393707-A-T
MyVariant Identifiers: chr8:g.18251217A>T (hg19) chr8:g.18393707A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18393707A>T , CM000670.2:g.18393707A>T GRCh38
NC_000008.10:g.18251217A>T , CM000670.1:g.18251217A>T GRCh37
NC_000008.9:g.18295497A>T NCBI36
NG_012246.1:g.7463A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.-7+2362A>T MANE Select ENSP00000286479.3:n.-7+2362A>T
ENST00000286479.3:c.-7+2362A>T ENSP00000286479.3:n.-7+2362A>T
ENST00000520116.1:c.-58+2362A>T ENSP00000428416.1:n.-58+2362A>T
NM_000015.2:c.-7+2362A>T NP_000006.2:n.-7+2362A>T
XM_011544358.1:c.-7+971A>T XP_011542660.1:n.-7+971A>T
XM_017012938.1:c.-6-6291A>T XP_016868427.1:n.-6-6291A>T
NM_000015.3:c.-7+2362A>T MANE Select NP_000006.2:n.-7+2362A>T
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