Canonical Allele Identifier: CA380861441

Gene: FADS2

Linked Data

• MyVariant Identifiers: chr11:g.61633117A>T (hg19) ; chr11:g.61865645A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61865645A>T , CM000673.2:g.61865645A>T	GRCh38
NC_000011.9:g.61633117A>T , CM000673.1:g.61633117A>T	GRCh37
NC_000011.8:g.61389693A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278840.9:c.1291A>T MANE Select	ENSP00000278840.4:p.Lys431Ter
ENST00000257261.10:c.1225A>T	ENSP00000257261.6:p.Lys409Ter
ENST00000278840.8:c.1291A>T	ENSP00000278840.4:p.Lys431Ter
ENST00000522056.5:c.1198A>T	ENSP00000429500.1:p.Lys400Ter
ENST00000523235.5:n.3371A>T
NM_001281501.1:c.1225A>T	NP_001268430.1:p.Lys409Ter
NM_001281502.1:c.1198A>T	NP_001268431.1:p.Lys400Ter
NM_004265.3:c.1291A>T	NP_004256.1:p.Lys431Ter
NM_004265.4:c.1291A>T MANE Select	NP_004256.1:p.Lys431Ter