Canonical Allele Identifier: CA10608017

Gene: MFN2

Linked Data

• ClinVar Variation Id: 292363
• ClinVar RCV Id: RCV000297136 ; RCV000400244
• dbSNP Id: rs886045216
• gnomAD v4: 1-11980290-C-T
• MyVariant Identifiers: chr1:g.12040347C>T (hg19) ; chr1:g.11980290C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11980290C>T , CM000663.2:g.11980290C>T	GRCh38
NC_000001.10:g.12040347C>T , CM000663.1:g.12040347C>T	GRCh37
NC_000001.9:g.11962934C>T	NCBI36
NG_007945.1:g.5110C>T , LRG_255:g.5110C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000412236.2:c.-408C>T	ENSP00000412023.1:n.-408C>T
ENST00000674548.1:c.-289C>T	ENSP00000502185.1:n.-289C>T
ENST00000674658.1:c.-442C>T	ENSP00000502334.1:n.-442C>T
ENST00000674706.1:n.32C>T
ENST00000674817.1:c.-199C>T	ENSP00000502151.1:n.-199C>T
ENST00000674910.1:c.-321C>T	ENSP00000501716.1:n.-321C>T
ENST00000675053.1:c.-247C>T	ENSP00000501646.1:n.-247C>T
ENST00000675194.1:n.82C>T
ENST00000675298.1:c.-344C>T	ENSP00000501839.1:n.-344C>T
ENST00000675530.1:c.-340C>T	ENSP00000501972.1:n.-340C>T
ENST00000675817.1:c.-344C>T	ENSP00000502422.1:n.-344C>T
ENST00000675872.1:n.53C>T
ENST00000675959.1:n.54C>T
ENST00000676369.1:c.-412C>T	ENSP00000502005.1:n.-412C>T
ENST00000676426.1:c.-344C>T	ENSP00000502359.1:n.-344C>T
ENST00000444836.5:c.-199C>T	ENSP00000416338.1:n.-199C>T
NM_001127660.1:c.-199C>T	NP_001121132.1:n.-199C>T
NM_014874.3:c.-344C>T , LRG_255t1:c.-344C>T	NP_055689.1:n.-344C>T
XM_005263543.2:c.-412C>T	XP_005263600.1:n.-412C>T
XM_005263548.2:c.-408C>T	XP_005263605.1:n.-408C>T
XM_005263543.3:c.-412C>T	XP_005263600.1:n.-412C>T
XM_005263548.3:c.-408C>T	XP_005263605.1:n.-408C>T