Canonical Allele Identifier: CA380861583

Gene: FADS2

Linked Data

• MyVariant Identifiers: chr11:g.61633150C>A (hg19) ; chr11:g.61865678C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61865678C>A , CM000673.2:g.61865678C>A	GRCh38
NC_000011.9:g.61633150C>A , CM000673.1:g.61633150C>A	GRCh37
NC_000011.8:g.61389726C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278840.9:c.1324C>A MANE Select	ENSP00000278840.4:p.Leu442Ile
ENST00000257261.10:c.1258C>A	ENSP00000257261.6:p.Leu420Ile
ENST00000278840.8:c.1324C>A	ENSP00000278840.4:p.Leu442Ile
ENST00000522056.5:c.1231C>A	ENSP00000429500.1:p.Leu411Ile
ENST00000523235.5:n.3404C>A
NM_001281501.1:c.1258C>A	NP_001268430.1:p.Leu420Ile
NM_001281502.1:c.1231C>A	NP_001268431.1:p.Leu411Ile
NM_004265.3:c.1324C>A	NP_004256.1:p.Leu442Ile
NM_004265.4:c.1324C>A MANE Select	NP_004256.1:p.Leu442Ile