Canonical Allele Identifier: CA380861593
Gene: FADS2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.61633151T>G (hg19) chr11:g.61865679T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61865679T>G , CM000673.2:g.61865679T>G GRCh38
NC_000011.9:g.61633151T>G , CM000673.1:g.61633151T>G GRCh37
NC_000011.8:g.61389727T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000278840.9:c.1325T>G MANE Select ENSP00000278840.4:p.Leu442Arg
ENST00000257261.10:c.1259T>G ENSP00000257261.6:p.Leu420Arg
ENST00000278840.8:c.1325T>G ENSP00000278840.4:p.Leu442Arg
ENST00000522056.5:c.1232T>G ENSP00000429500.1:p.Leu411Arg
ENST00000523235.5:n.3405T>G
NM_001281501.1:c.1259T>G NP_001268430.1:p.Leu420Arg
NM_001281502.1:c.1232T>G NP_001268431.1:p.Leu411Arg
NM_004265.3:c.1325T>G NP_004256.1:p.Leu442Arg
NM_004265.4:c.1325T>G MANE Select NP_004256.1:p.Leu442Arg
Search 100 bp 5'
Search 100 bp 3'