Canonical Allele Identifier: CA380861531
Gene: FADS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61865665G>T , CM000673.2:g.61865665G>T GRCh38
NC_000011.9:g.61633137G>T , CM000673.1:g.61633137G>T GRCh37
NC_000011.8:g.61389713G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000278840.9:c.1311G>T MANE Select ENSP00000278840.4:p.Trp437Cys
ENST00000257261.10:c.1245G>T ENSP00000257261.6:p.Trp415Cys
ENST00000278840.8:c.1311G>T ENSP00000278840.4:p.Trp437Cys
ENST00000522056.5:c.1218G>T ENSP00000429500.1:p.Trp406Cys
ENST00000523235.5:n.3391G>T
NM_001281501.1:c.1245G>T NP_001268430.1:p.Trp415Cys
NM_001281502.1:c.1218G>T NP_001268431.1:p.Trp406Cys
NM_004265.3:c.1311G>T NP_004256.1:p.Trp437Cys
NM_004265.4:c.1311G>T MANE Select NP_004256.1:p.Trp437Cys