Canonical Allele Identifier: CA380861613
Gene: FADS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61865684A>G , CM000673.2:g.61865684A>G GRCh38
NC_000011.9:g.61633156A>G , CM000673.1:g.61633156A>G GRCh37
NC_000011.8:g.61389732A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000278840.9:c.1330A>G MANE Select ENSP00000278840.4:p.Lys444Glu
ENST00000257261.10:c.1264A>G ENSP00000257261.6:p.Lys422Glu
ENST00000278840.8:c.1330A>G ENSP00000278840.4:p.Lys444Glu
ENST00000522056.5:c.1237A>G ENSP00000429500.1:p.Lys413Glu
ENST00000523235.5:n.3410A>G
NM_001281501.1:c.1264A>G NP_001268430.1:p.Lys422Glu
NM_001281502.1:c.1237A>G NP_001268431.1:p.Lys413Glu
NM_004265.3:c.1330A>G NP_004256.1:p.Lys444Glu
NM_004265.4:c.1330A>G MANE Select NP_004256.1:p.Lys444Glu