Canonical Allele Identifier: CA599519817
Gene: FADS2 HGNC NCBI

Linked Data

dbSNP Id: rs1397696471

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61830442C>T , CM000673.2:g.61830442C>T GRCh38
NC_000011.9:g.61597914C>T , CM000673.1:g.61597914C>T GRCh37
NC_000011.8:g.61354490C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000278840.9:c.207+1845C>T MANE Select ENSP00000278840.4:n.207+1845C>T
ENST00000257261.10:c.142-7336C>T ENSP00000257261.6:n.142-7336C>T
ENST00000278840.8:c.207+1845C>T ENSP00000278840.4:n.207+1845C>T
ENST00000517312.5:c.-160+1845C>T ENSP00000430225.1:n.-160+1845C>T
ENST00000518606.5:c.-160+3011C>T ENSP00000430054.1:n.-160+3011C>T
ENST00000521849.5:c.207+1845C>T ENSP00000431091.1:n.207+1845C>T
ENST00000522056.5:c.115-7336C>T ENSP00000429500.1:n.115-7336C>T
NM_001281501.1:c.142-7336C>T NP_001268430.1:n.142-7336C>T
NM_001281502.1:c.115-7336C>T NP_001268431.1:n.115-7336C>T
NM_004265.3:c.207+1845C>T NP_004256.1:n.207+1845C>T
XM_011545395.1:c.207+1845C>T XP_011543697.1:n.207+1845C>T
NM_004265.4:c.207+1845C>T MANE Select NP_004256.1:n.207+1845C>T