Canonical Allele Identifier: CA2574844694

Gene: FADS2

Linked Data

• gnomAD v4: 11-61837938-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61837938G>C , CM000673.2:g.61837938G>C	GRCh38
NC_000011.9:g.61605410G>C , CM000673.1:g.61605410G>C	GRCh37
NC_000011.8:g.61361986G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000278840.9:c.318+50G>C MANE Select	ENSP00000278840.4:n.318+50G>C
ENST00000257261.10:c.252+50G>C	ENSP00000257261.6:n.252+50G>C
ENST00000278840.8:c.318+50G>C	ENSP00000278840.4:n.318+50G>C
ENST00000517312.5:c.-49+50G>C	ENSP00000430225.1:n.-49+50G>C
ENST00000518606.5:c.-49+50G>C	ENSP00000430054.1:n.-49+50G>C
ENST00000521849.5:c.318+50G>C	ENSP00000431091.1:n.318+50G>C
ENST00000522056.5:c.225+50G>C	ENSP00000429500.1:n.225+50G>C
NM_001281501.1:c.252+50G>C	NP_001268430.1:n.252+50G>C
NM_001281502.1:c.225+50G>C	NP_001268431.1:n.225+50G>C
NM_004265.3:c.318+50G>C	NP_004256.1:n.318+50G>C
XM_011545395.1:c.318+50G>C	XP_011543697.1:n.318+50G>C
NM_004265.4:c.318+50G>C MANE Select	NP_004256.1:n.318+50G>C