Canonical Allele Identifier: CA599523867

Gene: FADS2

Linked Data

• dbSNP Id: rs1259325292
• gnomAD v2: 11-61633205-G-T
• gnomAD v4: 11-61865733-G-T
• MyVariant Identifiers: chr11:g.61633205G>T (hg19) ; chr11:g.61865733G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61865733G>T , CM000673.2:g.61865733G>T	GRCh38
NC_000011.9:g.61633205G>T , CM000673.1:g.61633205G>T	GRCh37
NC_000011.8:g.61389781G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278840.9:c.*44G>T MANE Select	ENSP00000278840.4:n.*44G>T
ENST00000257261.10:c.*44G>T	ENSP00000257261.6:n.*44G>T
ENST00000278840.8:c.*44G>T	ENSP00000278840.4:n.*44G>T
ENST00000522056.5:c.*44G>T	ENSP00000429500.1:n.*44G>T
ENST00000523235.5:n.3459G>T
NM_001281501.1:c.*44G>T	NP_001268430.1:n.*44G>T
NM_001281502.1:c.*44G>T	NP_001268431.1:n.*44G>T
NM_004265.3:c.*44G>T	NP_004256.1:n.*44G>T
NM_004265.4:c.*44G>T MANE Select	NP_004256.1:n.*44G>T