Canonical Allele Identifier: CA892199834

Gene: NCF2 SMG7

Linked Data

• dbSNP Id: rs1477830498
• gnomAD v3: 1-183563360-ATCC-A
• gnomAD v4: 1-183563360-ATCC-A
• MyVariant Identifiers: chr1:g.183532496_183532498del (hg19) ; chr1:g.183563361_183563363del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183563366_183563368del , CM000663.2:g.183563366_183563368del	GRCh38
NC_000001.10:g.183532501_183532503del , CM000663.1:g.183532501_183532503del	GRCh37
NC_000001.9:g.181799124_181799126del	NCBI36
NG_007267.1:g.32219_32221del , LRG_88:g.32219_32221del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000469280.2:n.619-57_619-55del (NCF2)
ENST00000697329.1:n.1099-57_1099-55del (NCF2)
ENST00000697330.1:c.1179-57_1179-55del (NCF2)	ENSP00000513258.1:n.1179-57_1179-55del
ENST00000697351.1:c.1071-57_1071-55del (NCF2)	ENSP00000513276.1:n.1071-57_1071-55del
ENST00000367535.8:c.1179-57_1179-55del (NCF2) MANE Select	ENSP00000356505.4:n.1179-57_1179-55del
ENST00000367535.7:c.1179-57_1179-55del (NCF2)	ENSP00000356505.3:n.1179-57_1179-55del
ENST00000367536.5:c.1179-57_1179-55del (NCF2)	ENSP00000356506.1:n.1179-57_1179-55del
ENST00000413720.5:c.1044-57_1044-55del (NCF2)	ENSP00000399294.1:n.1044-57_1044-55del
ENST00000418089.5:c.936-57_936-55del (NCF2)	ENSP00000407217.1:n.936-57_936-55del
ENST00000419402.1:c.396-57_396-55del (NCF2)	ENSP00000406198.1:n.396-57_396-55del
ENST00000420553.5:c.132-57_132-55del (NCF2)	ENSP00000397228.1:n.132-57_132-55del
ENST00000469280.1:n.619-57_619-55del (NCF2)
ENST00000495321.1:n.233+12176_233+12178del (SMG7)
NM_000433.3:c.1179-57_1179-55del , LRG_88t1:c.1179-57_1179-55del (NCF2)	NP_000424.2:n.1179-57_1179-55del
NM_001127651.2:c.1179-57_1179-55del (NCF2)	NP_001121123.1:n.1179-57_1179-55del
NM_001190789.1:c.936-57_936-55del (NCF2)	NP_001177718.1:n.936-57_936-55del
NM_001190794.1:c.1044-57_1044-55del (NCF2)	NP_001177723.1:n.1044-57_1044-55del
XM_005245207.1:c.1071-57_1071-55del (NCF2)	XP_005245264.1:n.1071-57_1071-55del
XM_011509580.1:c.1179-57_1179-55del (NCF2)	XP_011507882.1:n.1179-57_1179-55del
XM_011509581.1:c.1179-57_1179-55del (NCF2)	XP_011507883.1:n.1179-57_1179-55del
XR_921801.1:n.1241-57_1241-55del (NCF2)
NM_000433.4:c.1179-57_1179-55del (NCF2) MANE Select	NP_000424.2:n.1179-57_1179-55del
NM_001127651.3:c.1179-57_1179-55del (NCF2)	NP_001121123.1:n.1179-57_1179-55del
NM_001190789.2:c.936-57_936-55del (NCF2)	NP_001177718.1:n.936-57_936-55del
NM_001190794.2:c.1044-57_1044-55del (NCF2)	NP_001177723.1:n.1044-57_1044-55del