Canonical Allele Identifier: CA679012100

Gene: FADS2

Linked Data

• dbSNP Id: rs1256257993
• gnomAD v3: 11-61829593-C-G
• gnomAD v4: 11-61829593-C-G
• MyVariant Identifiers: chr11:g.61597065C>G (hg19) ; chr11:g.61829593C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61829593C>G , CM000673.2:g.61829593C>G	GRCh38
NC_000011.9:g.61597065C>G , CM000673.1:g.61597065C>G	GRCh37
NC_000011.8:g.61353641C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000278840.9:c.207+996C>G MANE Select	ENSP00000278840.4:n.207+996C>G
ENST00000257261.10:c.142-8185C>G	ENSP00000257261.6:n.142-8185C>G
ENST00000278840.8:c.207+996C>G	ENSP00000278840.4:n.207+996C>G
ENST00000517312.5:c.-160+996C>G	ENSP00000430225.1:n.-160+996C>G
ENST00000518606.5:c.-160+2162C>G	ENSP00000430054.1:n.-160+2162C>G
ENST00000521849.5:c.207+996C>G	ENSP00000431091.1:n.207+996C>G
ENST00000522056.5:c.115-8185C>G	ENSP00000429500.1:n.115-8185C>G
NM_001281501.1:c.142-8185C>G	NP_001268430.1:n.142-8185C>G
NM_001281502.1:c.115-8185C>G	NP_001268431.1:n.115-8185C>G
NM_004265.3:c.207+996C>G	NP_004256.1:n.207+996C>G
XM_011545395.1:c.207+996C>G	XP_011543697.1:n.207+996C>G
NM_004265.4:c.207+996C>G MANE Select	NP_004256.1:n.207+996C>G