Canonical Allele Identifier: CA289078664
Gene: NOS2 HGNC NCBI

Linked Data

dbSNP Id: rs936363571
gnomAD v3: 17-27804221-C-T
gnomAD v4: 17-27804221-C-T
MyVariant Identifiers: chr17:g.26131247C>T (hg19) chr17:g.27804221C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.27804221C>T , CM000679.2:g.27804221C>T GRCh38
NC_000017.10:g.26131247C>T , CM000679.1:g.26131247C>T GRCh37
NC_000017.9:g.23155374C>T NCBI36
NG_011470.1:g.1309G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000582441.1:c.340G>A ENSP00000462879.1:p.Glu114Lys
XM_011524859.1:c.-172G>A XP_011523161.1:n.-172G>A
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