Canonical Allele Identifier: CA173519033

Gene: NAT2

Linked Data

• dbSNP Id: rs564435046
• gnomAD v2: 8-18250905-G-A
• gnomAD v3: 8-18393395-G-A
• gnomAD v4: 8-18393395-G-A
• MyVariant Identifiers: chr8:g.18250905G>A (hg19) ; chr8:g.18393395G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18393395G>A , CM000670.2:g.18393395G>A	GRCh38
NC_000008.10:g.18250905G>A , CM000670.1:g.18250905G>A	GRCh37
NC_000008.9:g.18295185G>A	NCBI36
NG_012246.1:g.7151G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286479.4:c.-7+2050G>A MANE Select	ENSP00000286479.3:n.-7+2050G>A
ENST00000286479.3:c.-7+2050G>A	ENSP00000286479.3:n.-7+2050G>A
ENST00000520116.1:c.-58+2050G>A	ENSP00000428416.1:n.-58+2050G>A
NM_000015.2:c.-7+2050G>A	NP_000006.2:n.-7+2050G>A
XM_011544358.1:c.-7+659G>A	XP_011542660.1:n.-7+659G>A
XM_017012938.1:c.-7+6359G>A	XP_016868427.1:n.-7+6359G>A
NM_000015.3:c.-7+2050G>A MANE Select	NP_000006.2:n.-7+2050G>A