Canonical Allele Identifier: CA2581300021
Community Standard Title: NM_000625.4(NOS2):c.864+22A>T
Gene: NOS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.27781014T>A , CM000679.2:g.27781014T>A GRCh38
NC_000017.10:g.26108040T>A , CM000679.1:g.26108040T>A GRCh37
NC_000017.9:g.23132167T>A NCBI36
NG_011470.1:g.24516A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000625.4:c.864+22A>T MANE Select NP_000616.3:n.864+22A>T
ENST00000313735.11:c.864+22A>T MANE Select ENSP00000327251.6:n.864+22A>T
ENST00000313735.10:c.864+22A>T ENSP00000327251.6:n.864+22A>T
ENST00000621962.1:c.789+97A>T ENSP00000482291.1:n.789+97A>T
ENST00000646938.1:c.861+22A>T ENSP00000494870.1:n.861+22A>T
ENST00000697337.1:c.*310+22A>T ENSP00000513259.1:n.*310+22A>T
ENST00000697338.1:c.712+22A>T ENSP00000513260.1:n.712+22A>T
ENST00000697339.1:c.316-6563A>T ENSP00000513261.1:n.316-6563A>T
ENST00000697340.1:c.861+22A>T ENSP00000513262.1:n.861+22A>T
ENST00000697341.1:n.834+22A>T
XM_011524859.1:c.864+22A>T XP_011523161.1:n.864+22A>T
XM_011524860.1:c.861+22A>T XP_011523162.1:n.861+22A>T
XM_011524861.1:c.864+22A>T XP_011523163.1:n.864+22A>T
XM_011524862.1:c.198+22A>T XP_011523164.1:n.198+22A>T