Canonical Allele Identifier: CA998651150

Gene: MFN2

Linked Data

• dbSNP Id: rs1639612727
• gnomAD v3: 1-12009822-CAA-C
• gnomAD v4: 1-12009822-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.12009824_12009825del , CM000663.2:g.12009824_12009825del	GRCh38
NC_000001.10:g.12069881_12069882del , CM000663.1:g.12069881_12069882del	GRCh37
NC_000001.9:g.11992468_11992469del	NCBI36
NG_007945.1:g.34644_34645del , LRG_255:g.34644_34645del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235329.10:c.2204+98_2204+99del MANE Select	ENSP00000235329.5:n.2204+98_2204+99del
ENST00000674548.1:c.2204+98_2204+99del	ENSP00000502185.1:n.2204+98_2204+99del
ENST00000674658.1:c.1859+98_1859+99del	ENSP00000502334.1:n.1859+98_1859+99del
ENST00000674817.1:c.2204+98_2204+99del	ENSP00000502151.1:n.2204+98_2204+99del
ENST00000674910.1:c.2204+98_2204+99del	ENSP00000501716.1:n.2204+98_2204+99del
ENST00000675043.1:n.172+98_172+99del
ENST00000675053.1:c.2204+98_2204+99del	ENSP00000501646.1:n.2204+98_2204+99del
ENST00000675113.1:c.2204+98_2204+99del	ENSP00000502623.1:n.2204+98_2204+99del
ENST00000675231.1:c.2204+98_2204+99del	ENSP00000502404.1:n.2204+98_2204+99del
ENST00000675298.1:c.2204+98_2204+99del	ENSP00000501839.1:n.2204+98_2204+99del
ENST00000675404.1:n.2439+98_2439+99del
ENST00000675483.1:n.2332+98_2332+99del
ENST00000675512.1:c.*2206+98_*2206+99del	ENSP00000502630.1:n.*2206+98_*2206+99del
ENST00000675528.1:n.1695+98_1695+99del
ENST00000675817.1:c.2336+98_2336+99del	ENSP00000502422.1:n.2336+98_2336+99del
ENST00000675872.1:n.2564+98_2564+99del
ENST00000675919.1:c.2204+98_2204+99del	ENSP00000501776.1:n.2204+98_2204+99del
ENST00000675959.1:n.2710+98_2710+99del
ENST00000675987.1:c.*177+98_*177+99del	ENSP00000502145.1:n.*177+98_*177+99del
ENST00000676293.1:c.2204+98_2204+99del	ENSP00000502362.1:n.2204+98_2204+99del
ENST00000676295.1:n.617+98_617+99del
ENST00000676426.1:c.*1204+98_*1204+99del	ENSP00000502359.1:n.*1204+98_*1204+99del
ENST00000235329.9:c.2204+98_2204+99del	ENSP00000235329.5:n.2204+98_2204+99del
ENST00000444836.5:c.2204+98_2204+99del	ENSP00000416338.1:n.2204+98_2204+99del
NM_001127660.1:c.2204+98_2204+99del	NP_001121132.1:n.2204+98_2204+99del
NM_014874.3:c.2204+98_2204+99del , LRG_255t1:c.2204+98_2204+99del	NP_055689.1:n.2204+98_2204+99del
XM_005263543.2:c.2204+98_2204+99del	XP_005263600.1:n.2204+98_2204+99del
XM_005263545.2:c.2204+98_2204+99del	XP_005263602.1:n.2204+98_2204+99del
XM_005263547.2:c.2204+98_2204+99del	XP_005263604.1:n.2204+98_2204+99del
XM_005263548.2:c.2204+98_2204+99del	XP_005263605.1:n.2204+98_2204+99del
XM_005263543.3:c.2204+98_2204+99del	XP_005263600.1:n.2204+98_2204+99del
XM_005263545.3:c.2204+98_2204+99del	XP_005263602.1:n.2204+98_2204+99del
XM_005263547.3:c.2204+98_2204+99del	XP_005263604.1:n.2204+98_2204+99del
XM_005263548.3:c.2204+98_2204+99del	XP_005263605.1:n.2204+98_2204+99del
XM_024451299.1:c.2204+98_2204+99del	XP_024307067.1:n.2204+98_2204+99del
NM_014874.4:c.2204+98_2204+99del MANE Select	NP_055689.1:n.2204+98_2204+99del
NM_001127660.2:c.2204+98_2204+99del	NP_001121132.1:n.2204+98_2204+99del