Canonical Allele Identifier: CA380861485
Gene: FADS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61865654G>T , CM000673.2:g.61865654G>T GRCh38
NC_000011.9:g.61633126G>T , CM000673.1:g.61633126G>T GRCh37
NC_000011.8:g.61389702G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000278840.9:c.1300G>T MANE Select ENSP00000278840.4:p.Gly434Trp
ENST00000257261.10:c.1234G>T ENSP00000257261.6:p.Gly412Trp
ENST00000278840.8:c.1300G>T ENSP00000278840.4:p.Gly434Trp
ENST00000522056.5:c.1207G>T ENSP00000429500.1:p.Gly403Trp
ENST00000523235.5:n.3380G>T
NM_001281501.1:c.1234G>T NP_001268430.1:p.Gly412Trp
NM_001281502.1:c.1207G>T NP_001268431.1:p.Gly403Trp
NM_004265.3:c.1300G>T NP_004256.1:p.Gly434Trp
NM_004265.4:c.1300G>T MANE Select NP_004256.1:p.Gly434Trp