Canonical Allele Identifier: CA2613918698

Gene: FADS2

Linked Data

• gnomAD v4: 11-61865762-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61865762T>C , CM000673.2:g.61865762T>C	GRCh38
NC_000011.9:g.61633234T>C , CM000673.1:g.61633234T>C	GRCh37
NC_000011.8:g.61389810T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278840.9:c.*73T>C MANE Select	ENSP00000278840.4:n.*73T>C
ENST00000257261.10:c.*73T>C	ENSP00000257261.6:n.*73T>C
ENST00000278840.8:c.*73T>C	ENSP00000278840.4:n.*73T>C
ENST00000522056.5:c.*73T>C	ENSP00000429500.1:n.*73T>C
ENST00000523235.5:n.3488T>C
NM_001281501.1:c.*73T>C	NP_001268430.1:n.*73T>C
NM_001281502.1:c.*73T>C	NP_001268431.1:n.*73T>C
NM_004265.3:c.*73T>C	NP_004256.1:n.*73T>C
NM_004265.4:c.*73T>C MANE Select	NP_004256.1:n.*73T>C