Canonical Allele Identifier: CA598955

Gene: MFN2

Linked Data

• ClinVar Variation Id: 1135307
• ClinVar RCV Id: RCV001470505
• dbSNP Id: rs758376405
• ExAC: 1:12061517 G / T
• gnomAD v2: 1-12061517-G-T
• gnomAD v3: 1-12001460-G-T
• gnomAD v4: 1-12001460-G-T
• MyVariant Identifiers: chr1:g.12061517G>T (hg19) ; chr1:g.12001460G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.12001460G>T , CM000663.2:g.12001460G>T	GRCh38
NC_000001.10:g.12061517G>T , CM000663.1:g.12061517G>T	GRCh37
NC_000001.9:g.11984104G>T	NCBI36
NG_007945.1:g.26280G>T , LRG_255:g.26280G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235329.10:c.876G>T MANE Select	ENSP00000235329.5:p.Val292=
ENST00000674548.1:c.876G>T	ENSP00000502185.1:p.Val292=
ENST00000674658.1:c.531G>T	ENSP00000502334.1:p.Val177=
ENST00000674817.1:c.876G>T	ENSP00000502151.1:p.Val292=
ENST00000674910.1:c.876G>T	ENSP00000501716.1:p.Val292=
ENST00000675053.1:c.876G>T	ENSP00000501646.1:p.Val292=
ENST00000675113.1:c.876G>T	ENSP00000502623.1:p.Val292=
ENST00000675194.1:n.1301G>T
ENST00000675231.1:c.876G>T	ENSP00000502404.1:p.Val292=
ENST00000675298.1:c.876G>T	ENSP00000501839.1:p.Val292=
ENST00000675404.1:n.1111G>T
ENST00000675483.1:n.1004G>T
ENST00000675512.1:c.*878G>T	ENSP00000502630.1:n.*878G>T
ENST00000675528.1:n.367G>T
ENST00000675817.1:c.876G>T	ENSP00000502422.1:p.Val292=
ENST00000675872.1:n.1236G>T
ENST00000675919.1:c.876G>T	ENSP00000501776.1:p.Val292=
ENST00000675959.1:n.1382G>T
ENST00000675987.1:c.876G>T	ENSP00000502145.1:p.Val292=
ENST00000676293.1:c.876G>T	ENSP00000502362.1:p.Val292=
ENST00000676426.1:c.659G>T	ENSP00000502359.1:p.Trp220Leu
ENST00000235329.9:c.876G>T	ENSP00000235329.5:p.Val292=
ENST00000444836.5:c.876G>T	ENSP00000416338.1:p.Val292=
NM_001127660.1:c.876G>T	NP_001121132.1:p.Val292=
NM_014874.3:c.876G>T , LRG_255t1:c.876G>T	NP_055689.1:p.Val292=
XM_005263543.2:c.876G>T	XP_005263600.1:p.Val292=
XM_005263545.2:c.876G>T	XP_005263602.1:p.Val292=
XM_005263547.2:c.876G>T	XP_005263604.1:p.Val292=
XM_005263548.2:c.876G>T	XP_005263605.1:p.Val292=
XM_005263543.3:c.876G>T	XP_005263600.1:p.Val292=
XM_005263545.3:c.876G>T	XP_005263602.1:p.Val292=
XM_005263547.3:c.876G>T	XP_005263604.1:p.Val292=
XM_005263548.3:c.876G>T	XP_005263605.1:p.Val292=
XM_024451299.1:c.876G>T	XP_024307067.1:p.Val292=
NM_014874.4:c.876G>T MANE Select	NP_055689.1:p.Val292=
NM_001127660.2:c.876G>T	NP_001121132.1:p.Val292=