Canonical Allele Identifier: CA2636788243

Gene: NOS2

Linked Data

• gnomAD v4: 17-27769402-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27769402A>G , CM000679.2:g.27769402A>G	GRCh38
NC_000017.10:g.26096428A>G , CM000679.1:g.26096428A>G	GRCh37
NC_000017.9:g.23120555A>G	NCBI36
NG_011470.1:g.36128T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000697337.1:c.*2595+133T>C	ENSP00000513259.1:n.*2595+133T>C
ENST00000697338.1:c.1707+133T>C	ENSP00000513260.1:n.1707+133T>C
ENST00000697339.1:c.893+133T>C	ENSP00000513261.1:n.893+133T>C
ENST00000697340.1:c.*576+133T>C	ENSP00000513262.1:n.*576+133T>C
ENST00000697341.1:n.1829+133T>C
ENST00000313735.11:c.1859+133T>C MANE Select	ENSP00000327251.6:n.1859+133T>C
ENST00000646938.1:c.1856+133T>C	ENSP00000494870.1:n.1856+133T>C
ENST00000313735.10:c.1859+133T>C	ENSP00000327251.6:n.1859+133T>C
ENST00000621962.1:c.1742+133T>C	ENSP00000482291.1:n.1742+133T>C
NM_000625.4:c.1859+133T>C MANE Select	NP_000616.3:n.1859+133T>C
XM_011524859.1:c.1859+133T>C	XP_011523161.1:n.1859+133T>C
XM_011524860.1:c.1856+133T>C	XP_011523162.1:n.1856+133T>C
XM_011524861.1:c.1859+133T>C	XP_011523163.1:n.1859+133T>C
XM_011524862.1:c.1193+133T>C	XP_011523164.1:n.1193+133T>C