Canonical Allele Identifier: CA338439486

Gene: MFN2

Linked Data

• ClinVar Variation Id: 1427278
• ClinVar RCV Id: RCV001933630
• dbSNP Id: rs748318825
• gnomAD v2: 1-12059144-A-C
• gnomAD v4: 1-11999087-A-C
• MyVariant Identifiers: chr1:g.12059144A>C (hg19) ; chr1:g.11999087A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11999087A>C , CM000663.2:g.11999087A>C	GRCh38
NC_000001.10:g.12059144A>C , CM000663.1:g.12059144A>C	GRCh37
NC_000001.9:g.11981731A>C	NCBI36
NG_007945.1:g.23907A>C , LRG_255:g.23907A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000235329.10:c.808A>C MANE Select	ENSP00000235329.5:p.Met270Leu
ENST00000674548.1:c.808A>C	ENSP00000502185.1:p.Met270Leu
ENST00000674658.1:c.463A>C	ENSP00000502334.1:p.Met155Leu
ENST00000674706.1:n.1247A>C
ENST00000674817.1:c.808A>C	ENSP00000502151.1:p.Met270Leu
ENST00000674910.1:c.808A>C	ENSP00000501716.1:p.Met270Leu
ENST00000675053.1:c.808A>C	ENSP00000501646.1:p.Met270Leu
ENST00000675113.1:c.808A>C	ENSP00000502623.1:p.Met270Leu
ENST00000675194.1:n.1233A>C
ENST00000675231.1:c.808A>C	ENSP00000502404.1:p.Met270Leu
ENST00000675298.1:c.808A>C	ENSP00000501839.1:p.Met270Leu
ENST00000675483.1:n.936A>C
ENST00000675512.1:c.*810A>C	ENSP00000502630.1:n.*810A>C
ENST00000675528.1:n.299A>C
ENST00000675817.1:c.808A>C	ENSP00000502422.1:p.Met270Leu
ENST00000675872.1:n.1168A>C
ENST00000675919.1:c.808A>C	ENSP00000501776.1:p.Met270Leu
ENST00000675959.1:n.1314A>C
ENST00000675987.1:c.808A>C	ENSP00000502145.1:p.Met270Leu
ENST00000676293.1:c.808A>C	ENSP00000502362.1:p.Met270Leu
ENST00000676426.1:c.599+1666A>C	ENSP00000502359.1:n.599+1666A>C
ENST00000235329.9:c.808A>C	ENSP00000235329.5:p.Met270Leu
ENST00000444836.5:c.808A>C	ENSP00000416338.1:p.Met270Leu
NM_001127660.1:c.808A>C	NP_001121132.1:p.Met270Leu
NM_014874.3:c.808A>C , LRG_255t1:c.808A>C	NP_055689.1:p.Met270Leu
XM_005263543.2:c.808A>C	XP_005263600.1:p.Met270Leu
XM_005263545.2:c.808A>C	XP_005263602.1:p.Met270Leu
XM_005263547.2:c.808A>C	XP_005263604.1:p.Met270Leu
XM_005263548.2:c.808A>C	XP_005263605.1:p.Met270Leu
XM_005263543.3:c.808A>C	XP_005263600.1:p.Met270Leu
XM_005263545.3:c.808A>C	XP_005263602.1:p.Met270Leu
XM_005263547.3:c.808A>C	XP_005263604.1:p.Met270Leu
XM_005263548.3:c.808A>C	XP_005263605.1:p.Met270Leu
XM_024451299.1:c.808A>C	XP_024307067.1:p.Met270Leu
NM_014874.4:c.808A>C MANE Select	NP_055689.1:p.Met270Leu
NM_001127660.2:c.808A>C	NP_001121132.1:p.Met270Leu