Canonical Allele Identifier: CA13383998
Gene: FADS2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61857233T>C , CM000673.2:g.61857233T>C GRCh38
NC_000011.9:g.61624705T>C , CM000673.1:g.61624705T>C GRCh37
NC_000011.8:g.61381281T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000278840.9:c.805+162T>C MANE Select ENSP00000278840.4:n.805+162T>C
ENST00000257261.10:c.739+162T>C ENSP00000257261.6:n.739+162T>C
ENST00000278840.8:c.805+162T>C ENSP00000278840.4:n.805+162T>C
ENST00000355484.3:c.103+162T>C ENSP00000437965.1:n.103+162T>C
ENST00000521571.6:c.103+162T>C ENSP00000443867.1:n.103+162T>C
ENST00000521849.5:c.805+162T>C ENSP00000431091.1:n.805+162T>C
ENST00000522056.5:c.712+162T>C ENSP00000429500.1:n.712+162T>C
ENST00000523235.5:n.2885+162T>C
NM_001281501.1:c.739+162T>C NP_001268430.1:n.739+162T>C
NM_001281502.1:c.712+162T>C NP_001268431.1:n.712+162T>C
NM_004265.3:c.805+162T>C NP_004256.1:n.805+162T>C
NM_004265.4:c.805+162T>C MANE Select NP_004256.1:n.805+162T>C
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