Canonical Allele Identifier: CA1977478875
Gene: FADS2 HGNC NCBI

Linked Data

dbSNP Id: rs2067192794

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61838452_61838456dup , CM000673.2:g.61838452_61838456dup GRCh38
NC_000011.9:g.61605924_61605928dup , CM000673.1:g.61605924_61605928dup GRCh37
NC_000011.8:g.61362500_61362504dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000278840.9:c.318+564_318+568dup MANE Select ENSP00000278840.4:n.318+564_318+568dup
ENST00000257261.10:c.252+564_252+568dup ENSP00000257261.6:n.252+564_252+568dup
ENST00000278840.8:c.318+564_318+568dup ENSP00000278840.4:n.318+564_318+568dup
ENST00000517312.5:c.-49+564_-49+568dup ENSP00000430225.1:n.-49+564_-49+568dup
ENST00000518606.5:c.-49+564_-49+568dup ENSP00000430054.1:n.-49+564_-49+568dup
ENST00000521849.5:c.318+564_318+568dup ENSP00000431091.1:n.318+564_318+568dup
ENST00000522056.5:c.225+564_225+568dup ENSP00000429500.1:n.225+564_225+568dup
NM_001281501.1:c.252+564_252+568dup NP_001268430.1:n.252+564_252+568dup
NM_001281502.1:c.225+564_225+568dup NP_001268431.1:n.225+564_225+568dup
NM_004265.3:c.318+564_318+568dup NP_004256.1:n.318+564_318+568dup
XM_011545395.1:c.318+564_318+568dup XP_011543697.1:n.318+564_318+568dup
NM_004265.4:c.318+564_318+568dup MANE Select NP_004256.1:n.318+564_318+568dup