Canonical Allele Identifier: CA919819747

Gene: NOS2

Linked Data

• dbSNP Id: rs1597554700
• gnomAD v3: 17-27782209-AAC-A
• gnomAD v4: 17-27782209-AAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27782215_27782216del , CM000679.2:g.27782215_27782216del	GRCh38
NC_000017.10:g.26109241_26109242del , CM000679.1:g.26109241_26109242del	GRCh37
NC_000017.9:g.23133368_23133369del	NCBI36
NG_011470.1:g.23319_23320del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697337.1:c.*77-105_*77-104del	ENSP00000513259.1:n.*77-105_*77-104del
ENST00000697338.1:c.479-105_479-104del	ENSP00000513260.1:n.479-105_479-104del
ENST00000697339.1:c.315+6598_315+6599del	ENSP00000513261.1:n.315+6598_315+6599del
ENST00000697340.1:c.628-105_628-104del	ENSP00000513262.1:n.628-105_628-104del
ENST00000697341.1:n.601-105_601-104del
ENST00000313735.11:c.631-105_631-104del MANE Select	ENSP00000327251.6:n.631-105_631-104del
ENST00000646938.1:c.628-105_628-104del	ENSP00000494870.1:n.628-105_628-104del
ENST00000313735.10:c.631-105_631-104del	ENSP00000327251.6:n.631-105_631-104del
ENST00000621962.1:c.631-105_631-104del	ENSP00000482291.1:n.631-105_631-104del
NM_000625.4:c.631-105_631-104del MANE Select	NP_000616.3:n.631-105_631-104del
XM_011524859.1:c.631-105_631-104del	XP_011523161.1:n.631-105_631-104del
XM_011524860.1:c.628-105_628-104del	XP_011523162.1:n.628-105_628-104del
XM_011524861.1:c.631-105_631-104del	XP_011523163.1:n.631-105_631-104del
XM_011524862.1:c.-36-105_-36-104del	XP_011523164.1:n.-36-105_-36-104del