Canonical Allele Identifier: CA892215781

Gene: NCF2 SMG7

Linked Data

• dbSNP Id: rs1304679592
• MyVariant Identifiers: chr1:g.183559730G>A (hg19) ; chr1:g.183590595G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183590595G>A , CM000663.2:g.183590595G>A	GRCh38
NC_000001.10:g.183559730G>A , CM000663.1:g.183559730G>A	GRCh37
NC_000001.9:g.181826353G>A	NCBI36
NG_007267.1:g.4987C>T , LRG_88:g.4987C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697330.1:c.-30-236C>T (NCF2)	ENSP00000513258.1:n.-30-236C>T
ENST00000697353.1:n.83+28C>T (NCF2)
ENST00000367536.5:c.-30-236C>T (NCF2)	ENSP00000356506.1:n.-30-236C>T
ENST00000413720.5:c.-266C>T (NCF2)	ENSP00000399294.1:n.-266C>T
ENST00000418089.5:c.-266C>T (NCF2)	ENSP00000407217.1:n.-266C>T
ENST00000495321.1:n.234-7174G>A (SMG7)
NM_000433.3:c.-266C>T , LRG_88t1:c.-266C>T (NCF2)	NP_000424.2:n.-266C>T
NM_001127651.2:c.-30-236C>T (NCF2)	NP_001121123.1:n.-30-236C>T
NM_001190789.1:c.-266C>T (NCF2)	NP_001177718.1:n.-266C>T
NM_001190794.1:c.-266C>T (NCF2)	NP_001177723.1:n.-266C>T
XM_011509580.1:c.-31+28C>T (NCF2)	XP_011507882.1:n.-31+28C>T
NM_001127651.3:c.-30-236C>T (NCF2)	NP_001121123.1:n.-30-236C>T