Canonical Allele Identifier: CA1284667

Gene: NCF2 SMG7

Linked Data

• ClinVar Variation Id: 2697516
• ClinVar RCV Id: RCV003498140
• dbSNP Id: rs756393096
• ExAC: 1:183532575 TTAGTGTG / T
• gnomAD v2: 1-183532575-TTAGTGTG-T
• gnomAD v4: 1-183563440-TTAGTGTG-T
• MyVariant Identifiers: chr1:g.183532576_183532582del (hg19) ; chr1:g.183563441_183563447del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183563442_183563448del , CM000663.2:g.183563442_183563448del	GRCh38
NC_000001.10:g.183532577_183532583del , CM000663.1:g.183532577_183532583del	GRCh37
NC_000001.9:g.181799200_181799206del	NCBI36
NG_007267.1:g.32135_32141del , LRG_88:g.32135_32141del

Transcript Alleles

HGVS	Amino-acid change
ENST00000469280.2:n.605_611del (NCF2)
ENST00000697329.1:n.1085_1091del (NCF2)
ENST00000697330.1:c.1165_1171del (NCF2)	ENSP00000513258.1:p.His389SerfsTer2
ENST00000697351.1:c.1057_1063del (NCF2)	ENSP00000513276.1:p.His353SerfsTer2
ENST00000367535.8:c.1165_1171del (NCF2) MANE Select	ENSP00000356505.4:p.His389SerfsTer2
ENST00000367535.7:c.1165_1171del (NCF2)	ENSP00000356505.3:p.His389SerfsTer2
ENST00000367536.5:c.1165_1171del (NCF2)	ENSP00000356506.1:p.His389SerfsTer2
ENST00000413720.5:c.1030_1036del (NCF2)	ENSP00000399294.1:p.His344SerfsTer2
ENST00000418089.5:c.922_928del (NCF2)	ENSP00000407217.1:p.His308SerfsTer2
ENST00000419402.1:c.382_388del (NCF2)	ENSP00000406198.1:p.His128SerfsTer2
ENST00000420553.5:c.118_124del (NCF2)	ENSP00000397228.1:p.His40SerfsTer2
ENST00000469280.1:n.605_611del (NCF2)
ENST00000495321.1:n.233+12252_233+12258del (SMG7)
NM_000433.3:c.1165_1171del , LRG_88t1:c.1165_1171del (NCF2)	NP_000424.2:p.His389SerfsTer2
NM_001127651.2:c.1165_1171del (NCF2)	NP_001121123.1:p.His389SerfsTer2
NM_001190789.1:c.922_928del (NCF2)	NP_001177718.1:p.His308SerfsTer2
NM_001190794.1:c.1030_1036del (NCF2)	NP_001177723.1:p.His344SerfsTer2
XM_005245207.1:c.1057_1063del (NCF2)	XP_005245264.1:p.His353SerfsTer2
XM_011509580.1:c.1165_1171del (NCF2)	XP_011507882.1:p.His389SerfsTer2
XM_011509581.1:c.1165_1171del (NCF2)	XP_011507883.1:p.His389SerfsTer2
XR_921801.1:n.1227_1233del (NCF2)
NM_000433.4:c.1165_1171del (NCF2) MANE Select	NP_000424.2:p.His389SerfsTer2
NM_001127651.3:c.1165_1171del (NCF2)	NP_001121123.1:p.His389SerfsTer2
NM_001190789.2:c.922_928del (NCF2)	NP_001177718.1:p.His308SerfsTer2
NM_001190794.2:c.1030_1036del (NCF2)	NP_001177723.1:p.His344SerfsTer2