Canonical Allele Identifier: CA599520267

Gene: FADS2

Linked Data

• dbSNP Id: rs1469083237
• gnomAD v2: 11-61602484-C-CCCCCAGGGCCTCCTCCCTGCCT
• gnomAD v3: 11-61835012-C-CCCCCAGGGCCTCCTCCCTGCCT
• gnomAD v4: 11-61835012-C-CCCCCAGGGCCTCCTCCCTGCCT
• MyVariant Identifiers: chr11:g.61602484_61602485insCCCCAGGGCCTCCTCCCTGCCT (hg19) ; chr11:g.61835012_61835013insCCCCAGGGCCTCCTCCCTGCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61835021_61835042dup , CM000673.2:g.61835021_61835042dup	GRCh38
NC_000011.9:g.61602493_61602514dup , CM000673.1:g.61602493_61602514dup	GRCh37
NC_000011.8:g.61359069_61359090dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278840.9:c.208-2757_208-2736dup MANE Select	ENSP00000278840.4:n.208-2757_208-2736dup
ENST00000257261.10:c.142-2757_142-2736dup	ENSP00000257261.6:n.142-2757_142-2736dup
ENST00000278840.8:c.208-2757_208-2736dup	ENSP00000278840.4:n.208-2757_208-2736dup
ENST00000517312.5:c.-159-2757_-159-2736dup	ENSP00000430225.1:n.-159-2757_-159-2736dup
ENST00000518606.5:c.-159-2757_-159-2736dup	ENSP00000430054.1:n.-159-2757_-159-2736dup
ENST00000521849.5:c.208-2757_208-2736dup	ENSP00000431091.1:n.208-2757_208-2736dup
ENST00000522056.5:c.115-2757_115-2736dup	ENSP00000429500.1:n.115-2757_115-2736dup
NM_001281501.1:c.142-2757_142-2736dup	NP_001268430.1:n.142-2757_142-2736dup
NM_001281502.1:c.115-2757_115-2736dup	NP_001268431.1:n.115-2757_115-2736dup
NM_004265.3:c.208-2757_208-2736dup	NP_004256.1:n.208-2757_208-2736dup
XM_011545395.1:c.208-2757_208-2736dup	XP_011543697.1:n.208-2757_208-2736dup
NM_004265.4:c.208-2757_208-2736dup MANE Select	NP_004256.1:n.208-2757_208-2736dup