Canonical Allele Identifier: CA886265386

Gene: MFN2

Linked Data

• dbSNP Id: rs558368030
• gnomAD v3: 1-11980230-G-GGCGGAGGAGTGGCGC
• gnomAD v4: 1-11980230-G-GGCGGAGGAGTGGCGC
• MyVariant Identifiers: chr1:g.12040287_12040288insGCGGAGGAGTGGCGC (hg19) ; chr1:g.11980230_11980231insGCGGAGGAGTGGCGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11980248_11980262dup , CM000663.2:g.11980248_11980262dup	GRCh38
NC_000001.10:g.12040305_12040319dup , CM000663.1:g.12040305_12040319dup	GRCh37
NC_000001.9:g.11962892_11962906dup	NCBI36
NG_007945.1:g.5068_5082dup , LRG_255:g.5068_5082dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412236.2:c.-450_-436dup	ENSP00000412023.1:n.-450_-436dup
ENST00000674548.1:c.-331_-317dup	ENSP00000502185.1:n.-331_-317dup
ENST00000674817.1:c.-241_-227dup	ENSP00000502151.1:n.-241_-227dup
ENST00000675053.1:c.-289_-275dup	ENSP00000501646.1:n.-289_-275dup
ENST00000675194.1:n.40_54dup
ENST00000675298.1:c.-386_-372dup	ENSP00000501839.1:n.-386_-372dup
ENST00000675530.1:c.-382_-368dup	ENSP00000501972.1:n.-382_-368dup
ENST00000675817.1:c.-386_-372dup	ENSP00000502422.1:n.-386_-372dup
ENST00000676369.1:c.-454_-440dup	ENSP00000502005.1:n.-454_-440dup
ENST00000444836.5:c.-241_-227dup	ENSP00000416338.1:n.-241_-227dup
NM_001127660.1:c.-241_-227dup	NP_001121132.1:n.-241_-227dup
NM_014874.3:c.-386_-372dup , LRG_255t1:c.-386_-372dup	NP_055689.1:n.-386_-372dup
XM_005263548.2:c.-450_-436dup	XP_005263605.1:n.-450_-436dup
XM_005263548.3:c.-450_-436dup	XP_005263605.1:n.-450_-436dup