Canonical Allele Identifier: CA1977495065
Community Standard Title: NM_004265.4(FADS2):c.745-1343C=
Gene: FADS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61855668C= , CM000673.2:g.61855668C= GRCh38
NC_000011.9:g.61623140C= , CM000673.1:g.61623140C= GRCh37
NC_000011.8:g.61379716C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_004265.4:c.745-1343C= MANE Select NP_004256.1:n.745-1343C=
ENST00000278840.9:c.745-1343C= MANE Select ENSP00000278840.4:n.745-1343C=
NM_001281501.1:c.679-1343C= NP_001268430.1:n.679-1343C=
NM_001281502.1:c.652-1343C= NP_001268431.1:n.652-1343C=
NM_004265.3:c.745-1343C= NP_004256.1:n.745-1343C=
ENST00000257261.10:c.679-1343C= ENSP00000257261.6:n.679-1343C=
ENST00000278840.8:c.745-1343C= ENSP00000278840.4:n.745-1343C=
ENST00000355484.3:c.43-1343C= ENSP00000437965.1:n.43-1343C=
ENST00000521571.6:c.43-1343C= ENSP00000443867.1:n.43-1343C=
ENST00000521849.5:c.745-1343C= ENSP00000431091.1:n.745-1343C=
ENST00000522056.5:c.652-1343C= ENSP00000429500.1:n.652-1343C=
ENST00000523235.5:n.1482C=