Canonical Allele Identifier: CA599519706

Gene: FADS2 FADS1

Linked Data

• dbSNP Id: rs1296293136
• gnomAD v2: 11-61596693-C-A
• gnomAD v3: 11-61829221-C-A
• gnomAD v4: 11-61829221-C-A
• MyVariant Identifiers: chr11:g.61596693C>A (hg19) ; chr11:g.61829221C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61829221C>A , CM000673.2:g.61829221C>A	GRCh38
NC_000011.9:g.61596693C>A , CM000673.1:g.61596693C>A	GRCh37
NC_000011.8:g.61353269C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278840.9:c.207+624C>A (FADS2) MANE Select	ENSP00000278840.4:n.207+624C>A
ENST00000257261.10:c.142-8557C>A (FADS2)	ENSP00000257261.6:n.142-8557C>A
ENST00000278840.8:c.207+624C>A (FADS2)	ENSP00000278840.4:n.207+624C>A
ENST00000421879.5:c.-69G>T (FADS1)	ENSP00000416043.1:n.-69G>T
ENST00000448607.1:c.-328G>T (FADS1)	ENSP00000391229.1:n.-328G>T
ENST00000517312.5:c.-160+624C>A (FADS2)	ENSP00000430225.1:n.-160+624C>A
ENST00000518606.5:c.-160+1790C>A (FADS2)	ENSP00000430054.1:n.-160+1790C>A
ENST00000521849.5:c.207+624C>A (FADS2)	ENSP00000431091.1:n.207+624C>A
ENST00000522056.5:c.115-8557C>A (FADS2)	ENSP00000429500.1:n.115-8557C>A
NM_001281501.1:c.142-8557C>A (FADS2)	NP_001268430.1:n.142-8557C>A
NM_001281502.1:c.115-8557C>A (FADS2)	NP_001268431.1:n.115-8557C>A
NM_004265.3:c.207+624C>A (FADS2)	NP_004256.1:n.207+624C>A
XM_011545395.1:c.207+624C>A (FADS2)	XP_011543697.1:n.207+624C>A
NM_004265.4:c.207+624C>A (FADS2) MANE Select	NP_004256.1:n.207+624C>A