Canonical Allele Identifier: CA2975331719

Gene: FADS2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61829646_61829648dup , CM000673.2:g.61829646_61829648dup	GRCh38
NC_000011.9:g.61597118_61597120dup , CM000673.1:g.61597118_61597120dup	GRCh37
NC_000011.8:g.61353694_61353696dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278840.9:c.207+1049_207+1051dup MANE Select	ENSP00000278840.4:n.207+1049_207+1051dup
ENST00000257261.10:c.142-8132_142-8130dup	ENSP00000257261.6:n.142-8132_142-8130dup
ENST00000278840.8:c.207+1049_207+1051dup	ENSP00000278840.4:n.207+1049_207+1051dup
ENST00000517312.5:c.-160+1049_-160+1051dup	ENSP00000430225.1:n.-160+1049_-160+1051dup
ENST00000518606.5:c.-160+2215_-160+2217dup	ENSP00000430054.1:n.-160+2215_-160+2217dup
ENST00000521849.5:c.207+1049_207+1051dup	ENSP00000431091.1:n.207+1049_207+1051dup
ENST00000522056.5:c.115-8132_115-8130dup	ENSP00000429500.1:n.115-8132_115-8130dup
NM_001281501.1:c.142-8132_142-8130dup	NP_001268430.1:n.142-8132_142-8130dup
NM_001281502.1:c.115-8132_115-8130dup	NP_001268431.1:n.115-8132_115-8130dup
NM_004265.3:c.207+1049_207+1051dup	NP_004256.1:n.207+1049_207+1051dup
XM_011545395.1:c.207+1049_207+1051dup	XP_011543697.1:n.207+1049_207+1051dup
NM_004265.4:c.207+1049_207+1051dup MANE Select	NP_004256.1:n.207+1049_207+1051dup