Canonical Allele Identifier: CA222931379

Gene: FADS2

Linked Data

• dbSNP Id: rs796437152
• gnomAD v2: 11-61602547-G-A
• gnomAD v3: 11-61835075-G-A
• gnomAD v4: 11-61835075-G-A
• MyVariant Identifiers: chr11:g.61602547G>A (hg19) ; chr11:g.61835075G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61835075G>A , CM000673.2:g.61835075G>A	GRCh38
NC_000011.9:g.61602547G>A , CM000673.1:g.61602547G>A	GRCh37
NC_000011.8:g.61359123G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000278840.9:c.208-2703G>A MANE Select	ENSP00000278840.4:n.208-2703G>A
ENST00000257261.10:c.142-2703G>A	ENSP00000257261.6:n.142-2703G>A
ENST00000278840.8:c.208-2703G>A	ENSP00000278840.4:n.208-2703G>A
ENST00000517312.5:c.-159-2703G>A	ENSP00000430225.1:n.-159-2703G>A
ENST00000518606.5:c.-159-2703G>A	ENSP00000430054.1:n.-159-2703G>A
ENST00000521849.5:c.208-2703G>A	ENSP00000431091.1:n.208-2703G>A
ENST00000522056.5:c.115-2703G>A	ENSP00000429500.1:n.115-2703G>A
NM_001281501.1:c.142-2703G>A	NP_001268430.1:n.142-2703G>A
NM_001281502.1:c.115-2703G>A	NP_001268431.1:n.115-2703G>A
NM_004265.3:c.208-2703G>A	NP_004256.1:n.208-2703G>A
XM_011545395.1:c.208-2703G>A	XP_011543697.1:n.208-2703G>A
NM_004265.4:c.208-2703G>A MANE Select	NP_004256.1:n.208-2703G>A