Canonical Allele Identifier: CA380861580

Gene: FADS2

Linked Data

• MyVariant Identifiers: chr11:g.61633149C>G (hg19) ; chr11:g.61865677C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61865677C>G , CM000673.2:g.61865677C>G	GRCh38
NC_000011.9:g.61633149C>G , CM000673.1:g.61633149C>G	GRCh37
NC_000011.8:g.61389725C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278840.9:c.1323C>G MANE Select	ENSP00000278840.4:p.Tyr441Ter
ENST00000257261.10:c.1257C>G	ENSP00000257261.6:p.Tyr419Ter
ENST00000278840.8:c.1323C>G	ENSP00000278840.4:p.Tyr441Ter
ENST00000522056.5:c.1230C>G	ENSP00000429500.1:p.Tyr410Ter
ENST00000523235.5:n.3403C>G
NM_001281501.1:c.1257C>G	NP_001268430.1:p.Tyr419Ter
NM_001281502.1:c.1230C>G	NP_001268431.1:p.Tyr410Ter
NM_004265.3:c.1323C>G	NP_004256.1:p.Tyr441Ter
NM_004265.4:c.1323C>G MANE Select	NP_004256.1:p.Tyr441Ter