Canonical Allele Identifier: CA521203513

Gene: MFN2

Linked Data

• dbSNP Id: rs1557507717
• gnomAD v2: 1-12040324-A-AAGCGCCGAGT
• gnomAD v3: 1-11980267-A-AAGCGCCGAGT
• gnomAD v4: 1-11980267-A-AAGCGCCGAGT
• MyVariant Identifiers: chr1:g.12040324_12040325insAGCGCCGAGT (hg19) ; chr1:g.11980267_11980268insAGCGCCGAGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11980267_11980268insAGCGCCGAGT , CM000663.2:g.11980267_11980268insAGCGCCGAGT	GRCh38
NC_000001.10:g.12040324_12040325insAGCGCCGAGT , CM000663.1:g.12040324_12040325insAGCGCCGAGT	GRCh37
NC_000001.9:g.11962911_11962912insAGCGCCGAGT	NCBI36
NG_007945.1:g.5087_5088insAGCGCCGAGT , LRG_255:g.5087_5088insAGCGCCGAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412236.2:c.-431_-430insAGCGCCGAGT	ENSP00000412023.1:n.-431_-430insAGCGCCGAGT
ENST00000674548.1:c.-312_-311insAGCGCCGAGT	ENSP00000502185.1:n.-312_-311insAGCGCCGAGT
ENST00000674706.1:n.9_10insAGCGCCGAGT
ENST00000674817.1:c.-222_-221insAGCGCCGAGT	ENSP00000502151.1:n.-222_-221insAGCGCCGAGT
ENST00000675053.1:c.-270_-269insAGCGCCGAGT	ENSP00000501646.1:n.-270_-269insAGCGCCGAGT
ENST00000675194.1:n.59_60insAGCGCCGAGT
ENST00000675298.1:c.-367_-366insAGCGCCGAGT	ENSP00000501839.1:n.-367_-366insAGCGCCGAGT
ENST00000675530.1:c.-363_-362insAGCGCCGAGT	ENSP00000501972.1:n.-363_-362insAGCGCCGAGT
ENST00000675817.1:c.-367_-366insAGCGCCGAGT	ENSP00000502422.1:n.-367_-366insAGCGCCGAGT
ENST00000675872.1:n.30_31insAGCGCCGAGT
ENST00000675959.1:n.31_32insAGCGCCGAGT
ENST00000676369.1:c.-435_-434insAGCGCCGAGT	ENSP00000502005.1:n.-435_-434insAGCGCCGAGT
ENST00000676426.1:c.-367_-366insAGCGCCGAGT	ENSP00000502359.1:n.-367_-366insAGCGCCGAGT
ENST00000444836.5:c.-222_-221insAGCGCCGAGT	ENSP00000416338.1:n.-222_-221insAGCGCCGAGT
NM_001127660.1:c.-222_-221insAGCGCCGAGT	NP_001121132.1:n.-222_-221insAGCGCCGAGT
NM_014874.3:c.-367_-366insAGCGCCGAGT , LRG_255t1:c.-367_-366insAGCGCCGAGT	NP_055689.1:n.-367_-366insAGCGCCGAGT
XM_005263543.2:c.-435_-434insAGCGCCGAGT	XP_005263600.1:n.-435_-434insAGCGCCGAGT
XM_005263548.2:c.-431_-430insAGCGCCGAGT	XP_005263605.1:n.-431_-430insAGCGCCGAGT
XM_005263543.3:c.-435_-434insAGCGCCGAGT	XP_005263600.1:n.-435_-434insAGCGCCGAGT
XM_005263548.3:c.-431_-430insAGCGCCGAGT	XP_005263605.1:n.-431_-430insAGCGCCGAGT