Canonical Allele Identifier: CA380861416
Gene: FADS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61865639T>C , CM000673.2:g.61865639T>C GRCh38
NC_000011.9:g.61633111T>C , CM000673.1:g.61633111T>C GRCh37
NC_000011.8:g.61389687T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000278840.9:c.1285T>C MANE Select ENSP00000278840.4:p.Ser429Pro
ENST00000257261.10:c.1219T>C ENSP00000257261.6:p.Ser407Pro
ENST00000278840.8:c.1285T>C ENSP00000278840.4:p.Ser429Pro
ENST00000522056.5:c.1192T>C ENSP00000429500.1:p.Ser398Pro
ENST00000523235.5:n.3365T>C
NM_001281501.1:c.1219T>C NP_001268430.1:p.Ser407Pro
NM_001281502.1:c.1192T>C NP_001268431.1:p.Ser398Pro
NM_004265.3:c.1285T>C NP_004256.1:p.Ser429Pro
NM_004265.4:c.1285T>C MANE Select NP_004256.1:p.Ser429Pro