Canonical Allele Identifier: CA2613903459

Gene: FADS2 FADS1

Linked Data

• gnomAD v4: 11-61829235-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61829235T>C , CM000673.2:g.61829235T>C	GRCh38
NC_000011.9:g.61596707T>C , CM000673.1:g.61596707T>C	GRCh37
NC_000011.8:g.61353283T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278840.9:c.207+638T>C (FADS2) MANE Select	ENSP00000278840.4:n.207+638T>C
ENST00000257261.10:c.142-8543T>C (FADS2)	ENSP00000257261.6:n.142-8543T>C
ENST00000278840.8:c.207+638T>C (FADS2)	ENSP00000278840.4:n.207+638T>C
ENST00000421879.5:c.-83A>G (FADS1)	ENSP00000416043.1:n.-83A>G
ENST00000448607.1:c.-342A>G (FADS1)	ENSP00000391229.1:n.-342A>G
ENST00000517312.5:c.-160+638T>C (FADS2)	ENSP00000430225.1:n.-160+638T>C
ENST00000518606.5:c.-160+1804T>C (FADS2)	ENSP00000430054.1:n.-160+1804T>C
ENST00000521849.5:c.207+638T>C (FADS2)	ENSP00000431091.1:n.207+638T>C
ENST00000522056.5:c.115-8543T>C (FADS2)	ENSP00000429500.1:n.115-8543T>C
NM_001281501.1:c.142-8543T>C (FADS2)	NP_001268430.1:n.142-8543T>C
NM_001281502.1:c.115-8543T>C (FADS2)	NP_001268431.1:n.115-8543T>C
NM_004265.3:c.207+638T>C (FADS2)	NP_004256.1:n.207+638T>C
XM_011545395.1:c.207+638T>C (FADS2)	XP_011543697.1:n.207+638T>C
NM_004265.4:c.207+638T>C (FADS2) MANE Select	NP_004256.1:n.207+638T>C