Canonical Allele Identifier: CA1977475008
Gene: FADS2 HGNC NCBI

Linked Data

dbSNP Id: rs2067113506

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61829801G>C , CM000673.2:g.61829801G>C GRCh38
NC_000011.9:g.61597273G>C , CM000673.1:g.61597273G>C GRCh37
NC_000011.8:g.61353849G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000278840.9:c.207+1204G>C MANE Select ENSP00000278840.4:n.207+1204G>C
ENST00000257261.10:c.142-7977G>C ENSP00000257261.6:n.142-7977G>C
ENST00000278840.8:c.207+1204G>C ENSP00000278840.4:n.207+1204G>C
ENST00000517312.5:c.-160+1204G>C ENSP00000430225.1:n.-160+1204G>C
ENST00000518606.5:c.-160+2370G>C ENSP00000430054.1:n.-160+2370G>C
ENST00000521849.5:c.207+1204G>C ENSP00000431091.1:n.207+1204G>C
ENST00000522056.5:c.115-7977G>C ENSP00000429500.1:n.115-7977G>C
NM_001281501.1:c.142-7977G>C NP_001268430.1:n.142-7977G>C
NM_001281502.1:c.115-7977G>C NP_001268431.1:n.115-7977G>C
NM_004265.3:c.207+1204G>C NP_004256.1:n.207+1204G>C
XM_011545395.1:c.207+1204G>C XP_011543697.1:n.207+1204G>C
NM_004265.4:c.207+1204G>C MANE Select NP_004256.1:n.207+1204G>C