Canonical Allele Identifier: CA13461914
Gene: FADS2 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs99780

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61829161C>T , CM000673.2:g.61829161C>T GRCh38
NC_000011.9:g.61596633C>T , CM000673.1:g.61596633C>T GRCh37
NC_000011.8:g.61353209C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
NM_001281501.1:c.142-8617C>T VV NP_001268430.1:p.=
NM_001281502.1:c.115-8617C>T VV NP_001268431.1:p.=
NM_004265.3:c.207+564C>T VV NP_004256.1:p.=
XM_011545395.1:c.207+564C>T XP_011543697.1:p.=
NM_004265.4:c.207+564C>T VV MANE Preferred
ENST00000257261.10:c.142-8617C>T ENSP00000257261.6:p.=
ENST00000278840.8:c.207+564C>T ENSP00000278840.4:p.=
ENST00000421879.5:c.-49+40G>A ENSP00000416043.1:p.=
ENST00000448607.1:c.-308+40G>A ENSP00000391229.1:p.=
ENST00000517312.5:c.-160+564C>T ENSP00000430225.1:p.=
ENST00000518606.5:c.-160+1730C>T ENSP00000430054.1:p.=
ENST00000521849.5:c.207+564C>T ENSP00000431091.1:p.=
ENST00000522056.5:c.115-8617C>T ENSP00000429500.1:p.=