Canonical Allele Identifier: CA2643320833
Gene: MFN2 HGNC NCBI

Linked Data

gnomAD v4: 1-11980202-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11980202C>T , CM000663.2:g.11980202C>T GRCh38
NC_000001.10:g.12040259C>T , CM000663.1:g.12040259C>T GRCh37
NC_000001.9:g.11962846C>T NCBI36
NG_007945.1:g.5022C>T , LRG_255:g.5022C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000674817.1:c.-287C>T ENSP00000502151.1:n.-287C>T
ENST00000675053.1:c.-335C>T ENSP00000501646.1:n.-335C>T
ENST00000444836.5:c.-287C>T ENSP00000416338.1:n.-287C>T
NM_001127660.1:c.-287C>T NP_001121132.1:n.-287C>T
NM_014874.3:c.-432C>T , LRG_255t1:c.-432C>T NP_055689.1:n.-432C>T
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