Canonical Allele Identifier: CA289075362
Gene: NOS2 HGNC NCBI

Linked Data

dbSNP Id: rs28998805
gnomAD v2: 17-26124596-G-A
gnomAD v3: 17-27797570-G-A
gnomAD v4: 17-27797570-G-A
MyVariant Identifiers: chr17:g.26124596G>A (hg19) chr17:g.27797570G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.27797570G>A , CM000679.2:g.27797570G>A GRCh38
NC_000017.10:g.26124596G>A , CM000679.1:g.26124596G>A GRCh37
NC_000017.9:g.23148723G>A NCBI36
NG_011470.1:g.7960C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000697337.1:c.110+1130C>T ENSP00000513259.1:n.110+1130C>T
ENST00000313735.11:c.110+1130C>T MANE Select ENSP00000327251.6:n.110+1130C>T
ENST00000313735.10:c.110+1130C>T ENSP00000327251.6:n.110+1130C>T
ENST00000621962.1:c.110+1130C>T ENSP00000482291.1:n.110+1130C>T
NM_000625.4:c.110+1130C>T MANE Select NP_000616.3:n.110+1130C>T
XM_011524859.1:c.110+1130C>T XP_011523161.1:n.110+1130C>T
XM_011524861.1:c.110+1130C>T XP_011523163.1:n.110+1130C>T
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