Canonical Allele Identifier: CA173519057

Gene: NAT2

Linked Data

• dbSNP Id: rs144325789
• gnomAD v2: 8-18251021-A-G
• gnomAD v3: 8-18393511-A-G
• gnomAD v4: 8-18393511-A-G
• MyVariant Identifiers: chr8:g.18251021A>G (hg19) ; chr8:g.18393511A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18393511A>G , CM000670.2:g.18393511A>G	GRCh38
NC_000008.10:g.18251021A>G , CM000670.1:g.18251021A>G	GRCh37
NC_000008.9:g.18295301A>G	NCBI36
NG_012246.1:g.7267A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286479.4:c.-7+2166A>G MANE Select	ENSP00000286479.3:n.-7+2166A>G
ENST00000286479.3:c.-7+2166A>G	ENSP00000286479.3:n.-7+2166A>G
ENST00000520116.1:c.-58+2166A>G	ENSP00000428416.1:n.-58+2166A>G
NM_000015.2:c.-7+2166A>G	NP_000006.2:n.-7+2166A>G
XM_011544358.1:c.-7+775A>G	XP_011542660.1:n.-7+775A>G
XM_017012938.1:c.-7+6475A>G	XP_016868427.1:n.-7+6475A>G
NM_000015.3:c.-7+2166A>G MANE Select	NP_000006.2:n.-7+2166A>G