Canonical Allele Identifier: CA2613918818
Gene: FADS2 HGNC NCBI

Linked Data

gnomAD v4: 11-61865793-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61865793C>A , CM000673.2:g.61865793C>A GRCh38
NC_000011.9:g.61633265C>A , CM000673.1:g.61633265C>A GRCh37
NC_000011.8:g.61389841C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000278840.9:c.*104C>A MANE Select ENSP00000278840.4:n.*104C>A
ENST00000257261.10:c.*104C>A ENSP00000257261.6:n.*104C>A
ENST00000278840.8:c.*104C>A ENSP00000278840.4:n.*104C>A
ENST00000522056.5:c.*104C>A ENSP00000429500.1:n.*104C>A
ENST00000523235.5:n.3519C>A
NM_001281501.1:c.*104C>A NP_001268430.1:n.*104C>A
NM_001281502.1:c.*104C>A NP_001268431.1:n.*104C>A
NM_004265.3:c.*104C>A NP_004256.1:n.*104C>A
NM_004265.4:c.*104C>A MANE Select NP_004256.1:n.*104C>A
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