Canonical Allele Identifier: CA474558049
Gene: FADS2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.61633134G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61865662G>C , CM000673.2:g.61865662G>C GRCh38
NC_000011.9:g.61633134G>C , CM000673.1:g.61633134G>C GRCh37
NC_000011.8:g.61389710G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000278840.9:c.1308G>C MANE Select ENSP00000278840.4:p.Leu436=
ENST00000257261.10:c.1242G>C ENSP00000257261.6:p.Leu414=
ENST00000278840.8:c.1308G>C ENSP00000278840.4:p.Leu436=
ENST00000522056.5:c.1215G>C ENSP00000429500.1:p.Leu405=
ENST00000523235.5:n.3388G>C
NM_001281501.1:c.1242G>C NP_001268430.1:p.Leu414=
NM_001281502.1:c.1215G>C NP_001268431.1:p.Leu405=
NM_004265.3:c.1308G>C NP_004256.1:p.Leu436=
NM_004265.4:c.1308G>C MANE Select NP_004256.1:p.Leu436=
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