Canonical Allele Identifier: CA371094952
Community Standard Title: NM_001556.3(IKBKB):c.2205+2T>C
Gene: IKBKB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42329216T>C , CM000670.2:g.42329216T>C GRCh38
NC_000008.10:g.42186734T>C , CM000670.1:g.42186734T>C GRCh37
NC_000008.9:g.42305891T>C NCBI36
NG_041793.1:g.62915T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001556.3:c.2205+2T>C MANE Select NP_001547.1:n.2205+2T>C
ENST00000520810.6:c.2205+2T>C MANE Select ENSP00000430684.1:n.2205+2T>C
NM_001190720.2:c.2199+2T>C NP_001177649.1:n.2199+2T>C
NM_001190720.3:c.2013+2T>C NP_001177649.2:n.2013+2T>C
NM_001242778.1:c.2028+2T>C NP_001229707.1:n.2028+2T>C
NM_001242778.2:c.2028+2T>C NP_001229707.1:n.2028+2T>C
NM_001556.2:c.2205+2T>C NP_001547.1:n.2205+2T>C
NR_033818.1:n.2447+2T>C
NR_033818.2:n.2447+2T>C
NR_033819.1:n.2329+2T>C
NR_033819.2:n.2329+2T>C
NR_040009.1:n.2338+2T>C
NR_040009.2:n.2338+2T>C
ENST00000342222.6:c.*1766+2T>C ENSP00000339151.2:n.*1766+2T>C
ENST00000416505.5:c.2028+2T>C ENSP00000404920.2:n.2028+2T>C
ENST00000416505.7:c.1806+2T>C
ENST00000517890.5:c.*1963+2T>C ENSP00000428799.1:n.*1963+2T>C
ENST00000518679.5:c.*1486+2T>C ENSP00000430557.1:n.*1486+2T>C
ENST00000519938.5:n.1707+2T>C
ENST00000520201.5:n.3460+2T>C
ENST00000520655.5:c.*454+2T>C ENSP00000428922.1:n.*454+2T>C
ENST00000520810.5:c.2205+2T>C ENSP00000430684.1:n.2205+2T>C
ENST00000520835.5:c.2199+2T>C ENSP00000430868.1:n.2199+2T>C
ENST00000520835.7:c.2013+2T>C ENSP00000430868.2:n.2013+2T>C
ENST00000522103.3:n.579+2T>C
ENST00000522147.4:c.106-1991T>C ENSP00000428892.1:n.106-1991T>C
ENST00000523018.5:n.275T>C
ENST00000523517.5:c.*1024+2T>C ENSP00000430114.1:n.*1024+2T>C
ENST00000523599.1:n.1553T>C
ENST00000523599.2:n.1088T>C
ENST00000629753.1:c.*454+2T>C ENSP00000486961.1:n.*454+2T>C
ENST00000629753.2:c.*2019+2T>C ENSP00000486961.2:n.*2019+2T>C
ENST00000648136.2:n.3167+2T>C
ENST00000649612.3:c.1817-1698T>C
ENST00000676525.1:c.1715-1698T>C ENSP00000503997.1:n.1715-1698T>C
XM_005273490.1:c.2207T>C XP_005273547.1:p.Val736Ala
XM_005273490.3:c.2207T>C XP_005273547.1:p.Val736Ala
XM_005273491.3:c.2030T>C XP_005273548.1:p.Val677Ala
XM_005273491.5:c.2030T>C XP_005273548.1:p.Val677Ala
XM_005273492.2:c.2115-1698T>C XP_005273549.1:n.2115-1698T>C
XM_005273492.4:c.2115-1698T>C XP_005273549.1:n.2115-1698T>C
XM_005273493.2:c.1892T>C XP_005273550.1:p.Val631Ala
XM_005273493.4:c.1892T>C XP_005273550.1:p.Val631Ala
XM_005273495.1:c.1577T>C XP_005273552.1:p.Val526Ala
XM_005273495.2:c.1577T>C XP_005273552.1:p.Val526Ala
XM_005273496.2:c.1577T>C XP_005273553.1:p.Val526Ala
XM_005273496.4:c.1577T>C XP_005273553.1:p.Val526Ala
XM_005273498.2:c.1577T>C XP_005273555.1:p.Val526Ala
XM_005273498.4:c.1577T>C XP_005273555.1:p.Val526Ala
XM_011544517.1:c.2207T>C XP_011542819.1:p.Val736Ala
XM_011544517.2:c.2207T>C XP_011542819.1:p.Val736Ala
XM_011544518.1:c.2057T>C XP_011542820.1:p.Val686Ala
XM_011544518.2:c.2057T>C XP_011542820.1:p.Val686Ala
XM_011544519.1:c.2030T>C XP_011542821.1:p.Val677Ala
XM_011544519.2:c.2030T>C XP_011542821.1:p.Val677Ala
XM_011544520.1:c.1952T>C XP_011542822.1:p.Val651Ala
XM_011544520.2:c.1952T>C XP_011542822.1:p.Val651Ala
XM_011544521.1:c.1577T>C XP_011542823.1:p.Val526Ala
XM_011544521.2:c.1577T>C XP_011542823.1:p.Val526Ala
XM_011544522.1:c.1370T>C XP_011542824.1:p.Val457Ala
XM_011544522.2:c.1370T>C XP_011542824.1:p.Val457Ala
XM_017013396.1:c.1370T>C XP_016868885.1:p.Val457Ala
XR_001745530.2:n.2237-1698T>C
XR_949402.1:n.2229+2T>C
XR_949402.3:n.2809+2T>C