Canonical Allele Identifier: CA13418943
Gene: FADS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1269746
ClinVar RCV Id: RCV001683904
dbSNP Id: rs174575

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61834531C>G , CM000673.2:g.61834531C>G GRCh38
NC_000011.9:g.61602003C>G , CM000673.1:g.61602003C>G GRCh37
NC_000011.8:g.61358579C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000278840.9:c.208-3247C>G MANE Select ENSP00000278840.4:n.208-3247C>G
ENST00000257261.10:c.142-3247C>G ENSP00000257261.6:n.142-3247C>G
ENST00000278840.8:c.208-3247C>G ENSP00000278840.4:n.208-3247C>G
ENST00000517312.5:c.-159-3247C>G ENSP00000430225.1:n.-159-3247C>G
ENST00000518606.5:c.-159-3247C>G ENSP00000430054.1:n.-159-3247C>G
ENST00000521849.5:c.208-3247C>G ENSP00000431091.1:n.208-3247C>G
ENST00000522056.5:c.115-3247C>G ENSP00000429500.1:n.115-3247C>G
NM_001281501.1:c.142-3247C>G NP_001268430.1:n.142-3247C>G
NM_001281502.1:c.115-3247C>G NP_001268431.1:n.115-3247C>G
NM_004265.3:c.208-3247C>G NP_004256.1:n.208-3247C>G
XM_011545395.1:c.208-3247C>G XP_011543697.1:n.208-3247C>G
NM_004265.4:c.208-3247C>G MANE Select NP_004256.1:n.208-3247C>G