Canonical Allele Identifier: CA679017458
Gene: FADS2 HGNC NCBI

Linked Data

dbSNP Id: rs1374920116

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61838353C>T , CM000673.2:g.61838353C>T GRCh38
NC_000011.9:g.61605825C>T , CM000673.1:g.61605825C>T GRCh37
NC_000011.8:g.61362401C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000278840.9:c.318+465C>T MANE Select ENSP00000278840.4:n.318+465C>T
ENST00000257261.10:c.252+465C>T ENSP00000257261.6:n.252+465C>T
ENST00000278840.8:c.318+465C>T ENSP00000278840.4:n.318+465C>T
ENST00000517312.5:c.-49+465C>T ENSP00000430225.1:n.-49+465C>T
ENST00000518606.5:c.-49+465C>T ENSP00000430054.1:n.-49+465C>T
ENST00000521849.5:c.318+465C>T ENSP00000431091.1:n.318+465C>T
ENST00000522056.5:c.225+465C>T ENSP00000429500.1:n.225+465C>T
NM_001281501.1:c.252+465C>T NP_001268430.1:n.252+465C>T
NM_001281502.1:c.225+465C>T NP_001268431.1:n.225+465C>T
NM_004265.3:c.318+465C>T NP_004256.1:n.318+465C>T
XM_011545395.1:c.318+465C>T XP_011543697.1:n.318+465C>T
NM_004265.4:c.318+465C>T MANE Select NP_004256.1:n.318+465C>T