Canonical Allele Identifier: CA1977505289
Gene: FADS2 HGNC NCBI

Linked Data

dbSNP Id: rs1591183538

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61865634G>T , CM000673.2:g.61865634G>T GRCh38
NC_000011.9:g.61633106G>T , CM000673.1:g.61633106G>T GRCh37
NC_000011.8:g.61389682G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000278840.9:c.1284-4G>T MANE Select ENSP00000278840.4:n.1284-4G>T
ENST00000257261.10:c.1218-4G>T ENSP00000257261.6:n.1218-4G>T
ENST00000278840.8:c.1284-4G>T ENSP00000278840.4:n.1284-4G>T
ENST00000522056.5:c.1191-4G>T ENSP00000429500.1:n.1191-4G>T
ENST00000523235.5:n.3364-4G>T
NM_001281501.1:c.1218-4G>T NP_001268430.1:n.1218-4G>T
NM_001281502.1:c.1191-4G>T NP_001268431.1:n.1191-4G>T
NM_004265.3:c.1284-4G>T NP_004256.1:n.1284-4G>T
NM_004265.4:c.1284-4G>T MANE Select NP_004256.1:n.1284-4G>T