Canonical Allele Identifier: CA2613918947
Gene: FADS2 HGNC NCBI

Linked Data

gnomAD v4: 11-61865814-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61865814T>C , CM000673.2:g.61865814T>C GRCh38
NC_000011.9:g.61633286T>C , CM000673.1:g.61633286T>C GRCh37
NC_000011.8:g.61389862T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000278840.9:c.*125T>C MANE Select ENSP00000278840.4:n.*125T>C
ENST00000257261.10:c.*125T>C ENSP00000257261.6:n.*125T>C
ENST00000278840.8:c.*125T>C ENSP00000278840.4:n.*125T>C
ENST00000522056.5:c.*125T>C ENSP00000429500.1:n.*125T>C
ENST00000523235.5:n.3540T>C
NM_001281501.1:c.*125T>C NP_001268430.1:n.*125T>C
NM_001281502.1:c.*125T>C NP_001268431.1:n.*125T>C
NM_004265.3:c.*125T>C NP_004256.1:n.*125T>C
NM_004265.4:c.*125T>C MANE Select NP_004256.1:n.*125T>C
Search 100 bp 5'
Search 100 bp 3'