Canonical Allele Identifier: CA371676473

Gene: NBN

Linked Data

• dbSNP Id: rs2129647654
• MyVariant Identifiers: chr8:g.90958442T>A (hg19) ; chr8:g.89946214T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89946214T>A , CM000670.2:g.89946214T>A	GRCh38
NC_000008.10:g.90958442T>A , CM000670.1:g.90958442T>A	GRCh37
NC_000008.9:g.91027618T>A	NCBI36
NG_008860.1:g.43458A>T , LRG_158:g.43458A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3298A>T
ENST00000517337.2:c.1750A>T	ENSP00000429971.2:p.Asn584Tyr
ENST00000523444.2:c.1750A>T	ENSP00000428252.2:p.Asn584Tyr
ENST00000697292.1:c.1996A>T	ENSP00000513229.1:p.Asn666Tyr
ENST00000697293.1:c.1996A>T	ENSP00000513230.1:p.Asn666Tyr
ENST00000697294.1:c.*1607A>T	ENSP00000513231.1:n.*1607A>T
ENST00000697295.1:c.*1305A>T	ENSP00000513232.1:n.*1305A>T
ENST00000697296.1:c.*1664A>T	ENSP00000513233.1:n.*1664A>T
ENST00000697297.1:n.3781A>T
ENST00000697298.1:c.1750A>T	ENSP00000513234.1:p.Asn584Tyr
ENST00000697299.1:c.1750A>T	ENSP00000513235.1:p.Asn584Tyr
ENST00000697300.1:c.*1600A>T	ENSP00000513236.1:n.*1600A>T
ENST00000697301.1:c.*1517A>T	ENSP00000513237.1:n.*1517A>T
ENST00000697302.1:c.*1517A>T	ENSP00000513238.1:n.*1517A>T
ENST00000697303.1:c.*1600A>T	ENSP00000513239.1:n.*1600A>T
ENST00000697304.1:c.1684A>T	ENSP00000513240.1:p.Asn562Tyr
ENST00000697306.1:c.*2547A>T	ENSP00000513241.1:n.*2547A>T
ENST00000697307.1:c.1846-2848A>T	ENSP00000513242.1:n.1846-2848A>T
ENST00000697308.1:c.1927A>T	ENSP00000513243.1:p.Asn643Tyr
ENST00000697309.1:c.1996A>T	ENSP00000513244.1:p.Asn666Tyr
ENST00000697310.1:c.1996A>T	ENSP00000513245.1:p.Asn666Tyr
ENST00000697311.1:c.1996A>T	ENSP00000513246.1:p.Asn666Tyr
ENST00000697312.1:c.*1394A>T	ENSP00000513247.1:n.*1394A>T
ENST00000697313.1:n.2688-10602A>T
ENST00000697314.1:n.3636+7030A>T
ENST00000697315.1:c.1996A>T	ENSP00000513248.1:p.Asn666Tyr
ENST00000697316.1:n.2117A>T
ENST00000697317.1:n.2087A>T
ENST00000265433.8:c.1996A>T MANE Select	ENSP00000265433.4:p.Asn666Tyr
ENST00000265433.7:c.1996A>T	ENSP00000265433.3:p.Asn666Tyr
ENST00000396252.6:c.*1869A>T	ENSP00000379551.2:n.*1869A>T
ENST00000409330.5:c.1750A>T	ENSP00000386924.1:p.Asn584Tyr
ENST00000520325.1:n.412A>T
ENST00000613033.1:c.180+1610A>T	ENSP00000484487.1:n.180+1610A>T
NM_001024688.2:c.1750A>T	NP_001019859.1:p.Asn584Tyr
NM_002485.4:c.1996A>T , LRG_158t1:c.1996A>T	NP_002476.2:p.Asn666Tyr
XM_011517044.1:c.1972A>T	XP_011515346.1:p.Asn658Tyr
XM_011517045.1:c.1750A>T	XP_011515347.1:p.Asn584Tyr
XM_017013460.1:c.1117A>T	XP_016868949.1:p.Asn373Tyr
XM_017013462.2:c.1117A>T	XP_016868951.1:p.Asn373Tyr
XM_024447163.1:c.1750A>T	XP_024302931.1:p.Asn584Tyr
XM_024447164.1:c.1750A>T	XP_024302932.1:p.Asn584Tyr
XM_024447165.1:c.1117A>T	XP_024302933.1:p.Asn373Tyr
NM_002485.5:c.1996A>T MANE Select	NP_002476.2:p.Asn666Tyr
NM_001024688.3:c.1750A>T	NP_001019859.1:p.Asn584Tyr