Canonical Allele Identifier: CA2580577444
Community Standard Title: NM_004265.4(FADS2):c.805+162T>G
Gene: FADS2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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