Canonical Allele Identifier: CA1977478868
Gene: FADS2 HGNC NCBI

Linked Data

dbSNP Id: rs2067192656

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61838430_61838444dup , CM000673.2:g.61838430_61838444dup GRCh38
NC_000011.9:g.61605902_61605916dup , CM000673.1:g.61605902_61605916dup GRCh37
NC_000011.8:g.61362478_61362492dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000278840.9:c.318+542_318+556dup MANE Select ENSP00000278840.4:n.318+542_318+556dup
ENST00000257261.10:c.252+542_252+556dup ENSP00000257261.6:n.252+542_252+556dup
ENST00000278840.8:c.318+542_318+556dup ENSP00000278840.4:n.318+542_318+556dup
ENST00000517312.5:c.-49+542_-49+556dup ENSP00000430225.1:n.-49+542_-49+556dup
ENST00000518606.5:c.-49+542_-49+556dup ENSP00000430054.1:n.-49+542_-49+556dup
ENST00000521849.5:c.318+542_318+556dup ENSP00000431091.1:n.318+542_318+556dup
ENST00000522056.5:c.225+542_225+556dup ENSP00000429500.1:n.225+542_225+556dup
NM_001281501.1:c.252+542_252+556dup NP_001268430.1:n.252+542_252+556dup
NM_001281502.1:c.225+542_225+556dup NP_001268431.1:n.225+542_225+556dup
NM_004265.3:c.318+542_318+556dup NP_004256.1:n.318+542_318+556dup
XM_011545395.1:c.318+542_318+556dup XP_011543697.1:n.318+542_318+556dup
NM_004265.4:c.318+542_318+556dup MANE Select NP_004256.1:n.318+542_318+556dup