Canonical Allele Identifier: CA8455218
Gene: NOS2 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.27804300G>A
GRCh37 chr17:g.26131326G>A
gnomAD v2:
17:26131326 G / A
gnomAD v3:
17:27804300 G / A
gnomAD v4:
chr17-27804300-G-A
Joint Max Group AF 0.17089677 (NFE)
Genomes Max Group AF 0.1665362 (NFE)
Exomes Max Group AF 0.17198805 (NFE)
dbSNP:
2779251
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.27804300G>A , CM000679.2:g.27804300G>A GRCh38
NC_000017.10:g.26131326G>A , CM000679.1:g.26131326G>A GRCh37
NC_000017.9:g.23155453G>A NCBI36
NG_011470.1:g.1230C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000582441.1:c.261C>T ENSP00000462879.1:p.Cys87=
XM_011524859.1:c.-251C>T XP_011523161.1:n.-251C>T
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