Canonical Allele Identifier: CA679017463

Gene: FADS2

Linked Data

• dbSNP Id: rs1399263446
• gnomAD v3: 11-61838364-T-TGG
• gnomAD v4: 11-61838364-T-TGG
• MyVariant Identifiers: chr11:g.61605836_61605837insGG (hg19) ; chr11:g.61838364_61838365insGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61838366_61838367dup , CM000673.2:g.61838366_61838367dup	GRCh38
NC_000011.9:g.61605838_61605839dup , CM000673.1:g.61605838_61605839dup	GRCh37
NC_000011.8:g.61362414_61362415dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278840.9:c.318+478_318+479dup MANE Select	ENSP00000278840.4:n.318+478_318+479dup
ENST00000257261.10:c.252+478_252+479dup	ENSP00000257261.6:n.252+478_252+479dup
ENST00000278840.8:c.318+478_318+479dup	ENSP00000278840.4:n.318+478_318+479dup
ENST00000517312.5:c.-49+478_-49+479dup	ENSP00000430225.1:n.-49+478_-49+479dup
ENST00000518606.5:c.-49+478_-49+479dup	ENSP00000430054.1:n.-49+478_-49+479dup
ENST00000521849.5:c.318+478_318+479dup	ENSP00000431091.1:n.318+478_318+479dup
ENST00000522056.5:c.225+478_225+479dup	ENSP00000429500.1:n.225+478_225+479dup
NM_001281501.1:c.252+478_252+479dup	NP_001268430.1:n.252+478_252+479dup
NM_001281502.1:c.225+478_225+479dup	NP_001268431.1:n.225+478_225+479dup
NM_004265.3:c.318+478_318+479dup	NP_004256.1:n.318+478_318+479dup
XM_011545395.1:c.318+478_318+479dup	XP_011543697.1:n.318+478_318+479dup
NM_004265.4:c.318+478_318+479dup MANE Select	NP_004256.1:n.318+478_318+479dup