Canonical Allele Identifier: CA222928287

Gene: FADS2 FADS1

Linked Data

• dbSNP Id: rs533980322
• gnomAD v3: 11-61828990-C-A
• gnomAD v4: 11-61828990-C-A
• MyVariant Identifiers: chr11:g.61596462C>A (hg19) ; chr11:g.61828990C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61828990C>A , CM000673.2:g.61828990C>A	GRCh38
NC_000011.9:g.61596462C>A , CM000673.1:g.61596462C>A	GRCh37
NC_000011.8:g.61353038C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000278840.9:c.207+393C>A (FADS2) MANE Select	ENSP00000278840.4:n.207+393C>A
ENST00000257261.10:c.142-8788C>A (FADS2)	ENSP00000257261.6:n.142-8788C>A
ENST00000278840.8:c.207+393C>A (FADS2)	ENSP00000278840.4:n.207+393C>A
ENST00000421879.5:c.-49+211G>T (FADS1)	ENSP00000416043.1:n.-49+211G>T
ENST00000448607.1:c.-308+211G>T (FADS1)	ENSP00000391229.1:n.-308+211G>T
ENST00000517312.5:c.-160+393C>A (FADS2)	ENSP00000430225.1:n.-160+393C>A
ENST00000518606.5:c.-160+1559C>A (FADS2)	ENSP00000430054.1:n.-160+1559C>A
ENST00000521849.5:c.207+393C>A (FADS2)	ENSP00000431091.1:n.207+393C>A
ENST00000522056.5:c.115-8788C>A (FADS2)	ENSP00000429500.1:n.115-8788C>A
NM_001281501.1:c.142-8788C>A (FADS2)	NP_001268430.1:n.142-8788C>A
NM_001281502.1:c.115-8788C>A (FADS2)	NP_001268431.1:n.115-8788C>A
NM_004265.3:c.207+393C>A (FADS2)	NP_004256.1:n.207+393C>A
XM_011545395.1:c.207+393C>A (FADS2)	XP_011543697.1:n.207+393C>A
NM_004265.4:c.207+393C>A (FADS2) MANE Select	NP_004256.1:n.207+393C>A