Canonical Allele Identifier: CA398301571

Gene: NOS2

Linked Data

• MyVariant Identifiers: chr17:g.26096604T>A (hg19) ; chr17:g.27769578T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27769578T>A , CM000679.2:g.27769578T>A	GRCh38
NC_000017.10:g.26096604T>A , CM000679.1:g.26096604T>A	GRCh37
NC_000017.9:g.23120731T>A	NCBI36
NG_011470.1:g.35952A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697337.1:c.*2552A>T	ENSP00000513259.1:n.*2552A>T
ENST00000697338.1:c.1664A>T	ENSP00000513260.1:n.1664A>T
ENST00000697339.1:c.850A>T	ENSP00000513261.1:p.Lys284Ter
ENST00000697340.1:c.*533A>T	ENSP00000513262.1:n.*533A>T
ENST00000697341.1:n.1786A>T
ENST00000313735.11:c.1816A>T MANE Select	ENSP00000327251.6:p.Lys606Ter
ENST00000646938.1:c.1813A>T	ENSP00000494870.1:p.Lys605Ter
ENST00000313735.10:c.1816A>T	ENSP00000327251.6:p.Lys606Ter
ENST00000621962.1:c.1699A>T	ENSP00000482291.1:p.Lys567Ter
NM_000625.4:c.1816A>T MANE Select	NP_000616.3:p.Lys606Ter
XM_011524859.1:c.1816A>T	XP_011523161.1:p.Lys606Ter
XM_011524860.1:c.1813A>T	XP_011523162.1:p.Lys605Ter
XM_011524861.1:c.1816A>T	XP_011523163.1:p.Lys606Ter
XM_011524862.1:c.1150A>T	XP_011523164.1:p.Lys384Ter