Canonical Allele Identifier: CA679012422

Gene: FADS2

Linked Data

• dbSNP Id: rs1428150214
• gnomAD v3: 11-61830351-T-C
• gnomAD v4: 11-61830351-T-C
• MyVariant Identifiers: chr11:g.61597823T>C (hg19) ; chr11:g.61830351T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61830351T>C , CM000673.2:g.61830351T>C	GRCh38
NC_000011.9:g.61597823T>C , CM000673.1:g.61597823T>C	GRCh37
NC_000011.8:g.61354399T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000278840.9:c.207+1754T>C MANE Select	ENSP00000278840.4:n.207+1754T>C
ENST00000257261.10:c.142-7427T>C	ENSP00000257261.6:n.142-7427T>C
ENST00000278840.8:c.207+1754T>C	ENSP00000278840.4:n.207+1754T>C
ENST00000517312.5:c.-160+1754T>C	ENSP00000430225.1:n.-160+1754T>C
ENST00000518606.5:c.-160+2920T>C	ENSP00000430054.1:n.-160+2920T>C
ENST00000521849.5:c.207+1754T>C	ENSP00000431091.1:n.207+1754T>C
ENST00000522056.5:c.115-7427T>C	ENSP00000429500.1:n.115-7427T>C
NM_001281501.1:c.142-7427T>C	NP_001268430.1:n.142-7427T>C
NM_001281502.1:c.115-7427T>C	NP_001268431.1:n.115-7427T>C
NM_004265.3:c.207+1754T>C	NP_004256.1:n.207+1754T>C
XM_011545395.1:c.207+1754T>C	XP_011543697.1:n.207+1754T>C
NM_004265.4:c.207+1754T>C MANE Select	NP_004256.1:n.207+1754T>C