Canonical Allele Identifier: CA212792

Linked Data

ClinVar Variation Id: 2242
dbSNP Id: rs796065031

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183563439_183563443del , CM000663.2:g.183563439_183563443del GRCh38
NC_000001.10:g.183532574_183532578del , CM000663.1:g.183532574_183532578del GRCh37
NC_000001.9:g.181799197_181799201del NCBI36
NG_007267.1:g.32141_32145del , LRG_88:g.32141_32145del

Transcript Alleles

HGVS Amino-acid change
ENST00000469280.2:n.611_615del (NCF2)
ENST00000697329.1:n.1091_1095del (NCF2)
ENST00000697330.1:c.1171_1175del (NCF2) ENSP00000513258.1:p.Lys391GlufsTer9
ENST00000697351.1:c.1063_1067del (NCF2) ENSP00000513276.1:p.Lys355GlufsTer9
ENST00000367535.8:c.1171_1175del (NCF2) MANE Select ENSP00000356505.4:p.Lys391GlufsTer9
ENST00000367535.7:c.1171_1175del (NCF2) ENSP00000356505.3:p.Lys391GlufsTer9
ENST00000367536.5:c.1171_1175del (NCF2) ENSP00000356506.1:p.Lys391GlufsTer9
ENST00000413720.5:c.1036_1040del (NCF2) ENSP00000399294.1:p.Lys346GlufsTer9
ENST00000418089.5:c.928_932del (NCF2) ENSP00000407217.1:p.Lys310GlufsTer9
ENST00000419402.1:c.388_392del (NCF2) ENSP00000406198.1:p.Lys130GlufsTer9
ENST00000420553.5:c.124_128del (NCF2) ENSP00000397228.1:p.Lys42GlufsTer9
ENST00000469280.1:n.611_615del (NCF2)
ENST00000495321.1:n.233+12249_233+12253del (SMG7)
NM_000433.3:c.1171_1175del , LRG_88t1:c.1171_1175del (NCF2) NP_000424.2:p.Lys391GlufsTer9
NM_001127651.2:c.1171_1175del (NCF2) NP_001121123.1:p.Lys391GlufsTer9
NM_001190789.1:c.928_932del (NCF2) NP_001177718.1:p.Lys310GlufsTer9
NM_001190794.1:c.1036_1040del (NCF2) NP_001177723.1:p.Lys346GlufsTer9
XM_005245207.1:c.1063_1067del (NCF2) XP_005245264.1:p.Lys355GlufsTer9
XM_011509580.1:c.1171_1175del (NCF2) XP_011507882.1:p.Lys391GlufsTer9
XM_011509581.1:c.1171_1175del (NCF2) XP_011507883.1:p.Lys391GlufsTer9
XR_921801.1:n.1233_1237del (NCF2)
NM_000433.4:c.1171_1175del (NCF2) MANE Select NP_000424.2:p.Lys391GlufsTer9
NM_001127651.3:c.1171_1175del (NCF2) NP_001121123.1:p.Lys391GlufsTer9
NM_001190789.2:c.928_932del (NCF2) NP_001177718.1:p.Lys310GlufsTer9
NM_001190794.2:c.1036_1040del (NCF2) NP_001177723.1:p.Lys346GlufsTer9