Canonical Allele Identifier: CA18038506

Gene: MFN2

Linked Data

• ClinVar Variation Id: 675533
• ClinVar RCV Id: RCV000834896
• dbSNP Id: rs17037562
• gnomAD v2: 1-12052553-C-G
• gnomAD v3: 1-11992496-C-G
• gnomAD v4: 1-11992496-C-G
• MyVariant Identifiers: chr1:g.12052553C>G (hg19) ; chr1:g.11992496C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11992496C>G , CM000663.2:g.11992496C>G	GRCh38
NC_000001.10:g.12052553C>G , CM000663.1:g.12052553C>G	GRCh37
NC_000001.9:g.11975140C>G	NCBI36
NG_007945.1:g.17316C>G , LRG_255:g.17316C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235329.10:c.176-59C>G MANE Select	ENSP00000235329.5:n.176-59C>G
ENST00000412236.2:c.176-59C>G	ENSP00000412023.1:n.176-59C>G
ENST00000674548.1:c.176-59C>G	ENSP00000502185.1:n.176-59C>G
ENST00000674658.1:c.-34-3660C>G	ENSP00000502334.1:n.-34-3660C>G
ENST00000674706.1:n.615-59C>G
ENST00000674817.1:c.176-59C>G	ENSP00000502151.1:n.176-59C>G
ENST00000674910.1:c.176-59C>G	ENSP00000501716.1:n.176-59C>G
ENST00000675053.1:c.176-59C>G	ENSP00000501646.1:n.176-59C>G
ENST00000675113.1:c.176-59C>G	ENSP00000502623.1:n.176-59C>G
ENST00000675194.1:n.601-59C>G
ENST00000675231.1:c.176-59C>G	ENSP00000502404.1:n.176-59C>G
ENST00000675298.1:c.176-59C>G	ENSP00000501839.1:n.176-59C>G
ENST00000675483.1:n.245C>G
ENST00000675512.1:c.*177+33C>G	ENSP00000502630.1:n.*177+33C>G
ENST00000675530.1:c.176-59C>G	ENSP00000501972.1:n.176-59C>G
ENST00000675781.1:c.176-59C>G	ENSP00000501947.1:n.176-59C>G
ENST00000675817.1:c.176-59C>G	ENSP00000502422.1:n.176-59C>G
ENST00000675872.1:n.427-59C>G
ENST00000675919.1:c.176-59C>G	ENSP00000501776.1:n.176-59C>G
ENST00000675959.1:n.573-59C>G
ENST00000675987.1:c.176-59C>G	ENSP00000502145.1:n.176-59C>G
ENST00000676293.1:c.176-59C>G	ENSP00000502362.1:n.176-59C>G
ENST00000676369.1:c.176-59C>G	ENSP00000502005.1:n.176-59C>G
ENST00000676426.1:c.176-59C>G	ENSP00000502359.1:n.176-59C>G
ENST00000235329.9:c.176-59C>G	ENSP00000235329.5:n.176-59C>G
ENST00000412236.1:c.176-59C>G	ENSP00000412023.1:n.176-59C>G
ENST00000444836.5:c.176-59C>G	ENSP00000416338.1:n.176-59C>G
ENST00000497302.1:n.559+33C>G
NM_001127660.1:c.176-59C>G	NP_001121132.1:n.176-59C>G
NM_014874.3:c.176-59C>G , LRG_255t1:c.176-59C>G	NP_055689.1:n.176-59C>G
XM_005263543.2:c.176-59C>G	XP_005263600.1:n.176-59C>G
XM_005263545.2:c.176-59C>G	XP_005263602.1:n.176-59C>G
XM_005263547.2:c.176-59C>G	XP_005263604.1:n.176-59C>G
XM_005263548.2:c.176-59C>G	XP_005263605.1:n.176-59C>G
XM_005263543.3:c.176-59C>G	XP_005263600.1:n.176-59C>G
XM_005263545.3:c.176-59C>G	XP_005263602.1:n.176-59C>G
XM_005263547.3:c.176-59C>G	XP_005263604.1:n.176-59C>G
XM_005263548.3:c.176-59C>G	XP_005263605.1:n.176-59C>G
XM_024451299.1:c.176-59C>G	XP_024307067.1:n.176-59C>G
NM_014874.4:c.176-59C>G MANE Select	NP_055689.1:n.176-59C>G
NM_001127660.2:c.176-59C>G	NP_001121132.1:n.176-59C>G