Canonical Allele Identifier: CA33993259

Gene: NCF2 SMG7

Linked Data

• dbSNP Id: rs917644031
• gnomAD v2: 1-183559709-G-C
• gnomAD v3: 1-183590574-G-C
• gnomAD v4: 1-183590574-G-C
• MyVariant Identifiers: chr1:g.183559709G>C (hg19) ; chr1:g.183590574G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183590574G>C , CM000663.2:g.183590574G>C	GRCh38
NC_000001.10:g.183559709G>C , CM000663.1:g.183559709G>C	GRCh37
NC_000001.9:g.181826332G>C	NCBI36
NG_007267.1:g.5008C>G , LRG_88:g.5008C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697330.1:c.-30-215C>G (NCF2)	ENSP00000513258.1:n.-30-215C>G
ENST00000697352.1:n.18C>G (NCF2)
ENST00000697353.1:n.83+49C>G (NCF2)
ENST00000367535.7:c.-245C>G (NCF2)	ENSP00000356505.3:n.-245C>G
ENST00000367536.5:c.-30-215C>G (NCF2)	ENSP00000356506.1:n.-30-215C>G
ENST00000413720.5:c.-245C>G (NCF2)	ENSP00000399294.1:n.-245C>G
ENST00000418089.5:c.-245C>G (NCF2)	ENSP00000407217.1:n.-245C>G
ENST00000495321.1:n.234-7195G>C (SMG7)
NM_000433.3:c.-245C>G , LRG_88t1:c.-245C>G (NCF2)	NP_000424.2:n.-245C>G
NM_001127651.2:c.-30-215C>G (NCF2)	NP_001121123.1:n.-30-215C>G
NM_001190789.1:c.-245C>G (NCF2)	NP_001177718.1:n.-245C>G
NM_001190794.1:c.-245C>G (NCF2)	NP_001177723.1:n.-245C>G
XM_011509580.1:c.-31+49C>G (NCF2)	XP_011507882.1:n.-31+49C>G
XM_011509581.1:c.-83C>G (NCF2)	XP_011507883.1:n.-83C>G
NM_001127651.3:c.-30-215C>G (NCF2)	NP_001121123.1:n.-30-215C>G