Canonical Allele Identifier: CA349423
Community Standard Title: NM_002485.5(NBN):c.2246A>T (p.Tyr749Phe)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89935601T>A , CM000670.2:g.89935601T>A GRCh38
NC_000008.10:g.90947829T>A , CM000670.1:g.90947829T>A GRCh37
NC_000008.9:g.91017005T>A NCBI36
NG_008860.1:g.54071A>T , LRG_158:g.54071A>T

Transcript Alleles

HGVS Amino-acid Change
NM_002485.5:c.2246A>T (NBN) MANE Select NP_002476.2:p.Tyr749Phe
ENST00000265433.8:c.2246A>T (NBN) MANE Select ENSP00000265433.4:p.Tyr749Phe
NM_001024688.2:c.2000A>T (NBN) NP_001019859.1:p.Tyr667Phe
NM_001024688.3:c.2000A>T (NBN) NP_001019859.1:p.Tyr667Phe
NM_002485.4:c.2246A>T , LRG_158t1:c.2246A>T (NBN) NP_002476.2:p.Tyr749Phe
ENST00000265433.7:c.2246A>T (NBN) ENSP00000265433.3:p.Tyr749Phe
ENST00000396252.6:c.*2119A>T (NBN) ENSP00000379551.2:n.*2119A>T
ENST00000409330.5:c.2000A>T (NBN) ENSP00000386924.1:p.Tyr667Phe
ENST00000474821.1:n.334A>T (NBN)
ENST00000474821.2:n.3666A>T (NBN)
ENST00000494804.2:n.3548A>T (NBN)
ENST00000517337.2:c.2000A>T (NBN) ENSP00000429971.2:p.Tyr667Phe
ENST00000523444.2:c.2000A>T (NBN) ENSP00000428252.2:p.Tyr667Phe
ENST00000613033.1:c.356A>T (NBN) ENSP00000484487.1:p.Tyr119Phe
ENST00000697292.1:c.2246A>T (NBN) ENSP00000513229.1:p.Tyr749Phe
ENST00000697293.1:c.2297A>T (NBN) ENSP00000513230.1:p.Tyr766Phe
ENST00000697294.1:c.*1857A>T (NBN) ENSP00000513231.1:n.*1857A>T
ENST00000697295.1:c.*1555A>T (NBN) ENSP00000513232.1:n.*1555A>T
ENST00000697296.1:c.*1914A>T (NBN) ENSP00000513233.1:n.*1914A>T
ENST00000697297.1:n.4031A>T (NBN)
ENST00000697298.1:c.2000A>T (NBN) ENSP00000513234.1:p.Tyr667Phe
ENST00000697299.1:c.2000A>T (NBN) ENSP00000513235.1:p.Tyr667Phe
ENST00000697300.1:c.*1850A>T (NBN) ENSP00000513236.1:n.*1850A>T
ENST00000697301.1:c.*1767A>T (NBN) ENSP00000513237.1:n.*1767A>T
ENST00000697302.1:c.*1767A>T (NBN) ENSP00000513238.1:n.*1767A>T
ENST00000697303.1:c.*1850A>T (NBN) ENSP00000513239.1:n.*1850A>T
ENST00000697304.1:c.1934A>T (NBN) ENSP00000513240.1:p.Tyr645Phe
ENST00000697305.1:n.2513A>T (NBN)
ENST00000697306.1:c.*2797A>T (NBN) ENSP00000513241.1:n.*2797A>T
ENST00000697307.1:c.2021A>T (NBN) ENSP00000513242.1:p.Tyr674Phe
ENST00000697308.1:c.2177A>T (NBN) ENSP00000513243.1:p.Tyr726Phe
ENST00000697309.1:c.2196A>T (NBN) ENSP00000513244.1:p.Leu732Phe
ENST00000697310.1:c.2246A>T (NBN) ENSP00000513245.1:p.Tyr749Phe
ENST00000697311.1:c.*511A>T (NBN) ENSP00000513246.1:n.*511A>T
ENST00000697312.1:c.*1699A>T (NBN) ENSP00000513247.1:n.*1699A>T
ENST00000697313.1:n.2699A>T (NBN)
ENST00000697314.1:n.3648A>T (NBN)
ENST00000697315.1:c.*150A>T (NBN) ENSP00000513248.1:n.*150A>T
XM_011517044.1:c.2222A>T (NBN) XP_011515346.1:p.Tyr741Phe
XM_011517045.1:c.2000A>T (NBN) XP_011515347.1:p.Tyr667Phe
XM_011517287.3:c.*10069T>A (OSGIN2) XP_011515589.1:n.*10069T>A
XM_011517288.3:c.*10069T>A (OSGIN2) XP_011515590.1:n.*10069T>A
XM_017013460.1:c.1367A>T (NBN) XP_016868949.1:p.Tyr456Phe
XM_017013462.2:c.1367A>T (NBN) XP_016868951.1:p.Tyr456Phe
XM_024447163.1:c.2000A>T (NBN) XP_024302931.1:p.Tyr667Phe
XM_024447164.1:c.2000A>T (NBN) XP_024302932.1:p.Tyr667Phe
XM_024447165.1:c.1367A>T (NBN) XP_024302933.1:p.Tyr456Phe