Canonical Allele Identifier: CA2613918361
Gene: FADS2 HGNC NCBI

Linked Data

gnomAD v4: 11-61865610-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61865610T>A , CM000673.2:g.61865610T>A GRCh38
NC_000011.9:g.61633082T>A , CM000673.1:g.61633082T>A GRCh37
NC_000011.8:g.61389658T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000278840.9:c.1284-28T>A MANE Select ENSP00000278840.4:n.1284-28T>A
ENST00000257261.10:c.1218-28T>A ENSP00000257261.6:n.1218-28T>A
ENST00000278840.8:c.1284-28T>A ENSP00000278840.4:n.1284-28T>A
ENST00000522056.5:c.1191-28T>A ENSP00000429500.1:n.1191-28T>A
ENST00000523235.5:n.3364-28T>A
NM_001281501.1:c.1218-28T>A NP_001268430.1:n.1218-28T>A
NM_001281502.1:c.1191-28T>A NP_001268431.1:n.1191-28T>A
NM_004265.3:c.1284-28T>A NP_004256.1:n.1284-28T>A
NM_004265.4:c.1284-28T>A MANE Select NP_004256.1:n.1284-28T>A
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Search 100 bp 3'