Canonical Allele Identifier: CA938619745

Gene: FADS2

Linked Data

• dbSNP Id: rs2067117204
• gnomAD v3: 11-61830165-T-C
• gnomAD v4: 11-61830165-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61830165T>C , CM000673.2:g.61830165T>C	GRCh38
NC_000011.9:g.61597637T>C , CM000673.1:g.61597637T>C	GRCh37
NC_000011.8:g.61354213T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278840.9:c.207+1568T>C MANE Select	ENSP00000278840.4:n.207+1568T>C
ENST00000257261.10:c.142-7613T>C	ENSP00000257261.6:n.142-7613T>C
ENST00000278840.8:c.207+1568T>C	ENSP00000278840.4:n.207+1568T>C
ENST00000517312.5:c.-160+1568T>C	ENSP00000430225.1:n.-160+1568T>C
ENST00000518606.5:c.-160+2734T>C	ENSP00000430054.1:n.-160+2734T>C
ENST00000521849.5:c.207+1568T>C	ENSP00000431091.1:n.207+1568T>C
ENST00000522056.5:c.115-7613T>C	ENSP00000429500.1:n.115-7613T>C
NM_001281501.1:c.142-7613T>C	NP_001268430.1:n.142-7613T>C
NM_001281502.1:c.115-7613T>C	NP_001268431.1:n.115-7613T>C
NM_004265.3:c.207+1568T>C	NP_004256.1:n.207+1568T>C
XM_011545395.1:c.207+1568T>C	XP_011543697.1:n.207+1568T>C
NM_004265.4:c.207+1568T>C MANE Select	NP_004256.1:n.207+1568T>C