Canonical Allele Identifier: CA580185561
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs773929094
gnomAD v2: 8-18250912-G-T
gnomAD v3: 8-18393402-G-T
gnomAD v4: 8-18393402-G-T
MyVariant Identifiers: chr8:g.18250912G>T (hg19) chr8:g.18393402G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18393402G>T , CM000670.2:g.18393402G>T GRCh38
NC_000008.10:g.18250912G>T , CM000670.1:g.18250912G>T GRCh37
NC_000008.9:g.18295192G>T NCBI36
NG_012246.1:g.7158G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.-7+2057G>T MANE Select ENSP00000286479.3:n.-7+2057G>T
ENST00000286479.3:c.-7+2057G>T ENSP00000286479.3:n.-7+2057G>T
ENST00000520116.1:c.-58+2057G>T ENSP00000428416.1:n.-58+2057G>T
NM_000015.2:c.-7+2057G>T NP_000006.2:n.-7+2057G>T
XM_011544358.1:c.-7+666G>T XP_011542660.1:n.-7+666G>T
XM_017012938.1:c.-7+6366G>T XP_016868427.1:n.-7+6366G>T
NM_000015.3:c.-7+2057G>T MANE Select NP_000006.2:n.-7+2057G>T
Search 100 bp 5'
Search 100 bp 3'