Canonical Allele Identifier: CA1153896848
Gene: MFN2 HGNC NCBI

Linked Data

dbSNP Id: rs1365585989
gnomAD v4: 1-11980288-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11980288C>T , CM000663.2:g.11980288C>T GRCh38
NC_000001.10:g.12040345C>T , CM000663.1:g.12040345C>T GRCh37
NC_000001.9:g.11962932C>T NCBI36
NG_007945.1:g.5108C>T , LRG_255:g.5108C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000412236.2:c.-410C>T ENSP00000412023.1:n.-410C>T
ENST00000674548.1:c.-291C>T ENSP00000502185.1:n.-291C>T
ENST00000674658.1:c.-444C>T ENSP00000502334.1:n.-444C>T
ENST00000674706.1:n.30C>T
ENST00000674817.1:c.-201C>T ENSP00000502151.1:n.-201C>T
ENST00000674910.1:c.-323C>T ENSP00000501716.1:n.-323C>T
ENST00000675053.1:c.-249C>T ENSP00000501646.1:n.-249C>T
ENST00000675194.1:n.80C>T
ENST00000675298.1:c.-346C>T ENSP00000501839.1:n.-346C>T
ENST00000675530.1:c.-342C>T ENSP00000501972.1:n.-342C>T
ENST00000675817.1:c.-346C>T ENSP00000502422.1:n.-346C>T
ENST00000675872.1:n.51C>T
ENST00000675959.1:n.52C>T
ENST00000676369.1:c.-414C>T ENSP00000502005.1:n.-414C>T
ENST00000676426.1:c.-346C>T ENSP00000502359.1:n.-346C>T
ENST00000444836.5:c.-201C>T ENSP00000416338.1:n.-201C>T
NM_001127660.1:c.-201C>T NP_001121132.1:n.-201C>T
NM_014874.3:c.-346C>T , LRG_255t1:c.-346C>T NP_055689.1:n.-346C>T
XM_005263543.2:c.-414C>T XP_005263600.1:n.-414C>T
XM_005263548.2:c.-410C>T XP_005263605.1:n.-410C>T
XM_005263543.3:c.-414C>T XP_005263600.1:n.-414C>T
XM_005263548.3:c.-410C>T XP_005263605.1:n.-410C>T