Canonical Allele Identifier: CA222928527
Gene: FADS2 HGNC NCBI

Linked Data

dbSNP Id: rs764661717

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61829655T>C , CM000673.2:g.61829655T>C GRCh38
NC_000011.9:g.61597127T>C , CM000673.1:g.61597127T>C GRCh37
NC_000011.8:g.61353703T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000278840.9:c.207+1058T>C MANE Select ENSP00000278840.4:n.207+1058T>C
ENST00000257261.10:c.142-8123T>C ENSP00000257261.6:n.142-8123T>C
ENST00000278840.8:c.207+1058T>C ENSP00000278840.4:n.207+1058T>C
ENST00000517312.5:c.-160+1058T>C ENSP00000430225.1:n.-160+1058T>C
ENST00000518606.5:c.-160+2224T>C ENSP00000430054.1:n.-160+2224T>C
ENST00000521849.5:c.207+1058T>C ENSP00000431091.1:n.207+1058T>C
ENST00000522056.5:c.115-8123T>C ENSP00000429500.1:n.115-8123T>C
NM_001281501.1:c.142-8123T>C NP_001268430.1:n.142-8123T>C
NM_001281502.1:c.115-8123T>C NP_001268431.1:n.115-8123T>C
NM_004265.3:c.207+1058T>C NP_004256.1:n.207+1058T>C
XM_011545395.1:c.207+1058T>C XP_011543697.1:n.207+1058T>C
NM_004265.4:c.207+1058T>C MANE Select NP_004256.1:n.207+1058T>C