Canonical Allele Identifier: CA173519041
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs185870259
gnomAD v2: 8-18250936-G-A
gnomAD v3: 8-18393426-G-A
gnomAD v4: 8-18393426-G-A
MyVariant Identifiers: chr8:g.18250936G>A (hg19) chr8:g.18393426G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18393426G>A , CM000670.2:g.18393426G>A GRCh38
NC_000008.10:g.18250936G>A , CM000670.1:g.18250936G>A GRCh37
NC_000008.9:g.18295216G>A NCBI36
NG_012246.1:g.7182G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.-7+2081G>A MANE Select ENSP00000286479.3:n.-7+2081G>A
ENST00000286479.3:c.-7+2081G>A ENSP00000286479.3:n.-7+2081G>A
ENST00000520116.1:c.-58+2081G>A ENSP00000428416.1:n.-58+2081G>A
NM_000015.2:c.-7+2081G>A NP_000006.2:n.-7+2081G>A
XM_011544358.1:c.-7+690G>A XP_011542660.1:n.-7+690G>A
XM_017012938.1:c.-7+6390G>A XP_016868427.1:n.-7+6390G>A
NM_000015.3:c.-7+2081G>A MANE Select NP_000006.2:n.-7+2081G>A
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