Canonical Allele Identifier: CA173519050
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs760493879
COSMIC: COSN25841906
MyVariant Identifiers: chr8:g.18250976G>T (hg19) chr8:g.18393466G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18393466G>T , CM000670.2:g.18393466G>T GRCh38
NC_000008.10:g.18250976G>T , CM000670.1:g.18250976G>T GRCh37
NC_000008.9:g.18295256G>T NCBI36
NG_012246.1:g.7222G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.-7+2121G>T MANE Select ENSP00000286479.3:n.-7+2121G>T
ENST00000286479.3:c.-7+2121G>T ENSP00000286479.3:n.-7+2121G>T
ENST00000520116.1:c.-58+2121G>T ENSP00000428416.1:n.-58+2121G>T
NM_000015.2:c.-7+2121G>T NP_000006.2:n.-7+2121G>T
XM_011544358.1:c.-7+730G>T XP_011542660.1:n.-7+730G>T
XM_017012938.1:c.-7+6430G>T XP_016868427.1:n.-7+6430G>T
NM_000015.3:c.-7+2121G>T MANE Select NP_000006.2:n.-7+2121G>T
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