Canonical Allele Identifier: CA370636291
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1246640246
gnomAD v3: 8-18400629-T-G
gnomAD v4: 8-18400629-T-G
MyVariant Identifiers: chr8:g.18258139T>G (hg19) chr8:g.18400629T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400629T>G , CM000670.2:g.18400629T>G GRCh38
NC_000008.10:g.18258139T>G , CM000670.1:g.18258139T>G GRCh37
NC_000008.9:g.18302419T>G NCBI36
NG_012246.1:g.14385T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000286479.4:c.626T>G MANE Select ENSP00000286479.3:p.Leu209Arg
ENST00000286479.3:c.626T>G ENSP00000286479.3:p.Leu209Arg
ENST00000520116.1:c.236T>G ENSP00000428416.1:p.Leu79Arg
NM_000015.2:c.626T>G NP_000006.2:p.Leu209Arg
XM_011544358.1:c.626T>G XP_011542660.1:p.Leu209Arg
XM_017012938.1:c.626T>G XP_016868427.1:p.Leu209Arg
NM_000015.3:c.626T>G MANE Select NP_000006.2:p.Leu209Arg
Search 100 bp 5'
Search 100 bp 3'