Canonical Allele Identifier: CA788561

Gene: MFSD2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39957229G>A , CM000663.2:g.39957229G>A	GRCh38
NC_000001.10:g.40422901G>A , CM000663.1:g.40422901G>A	GRCh37
NC_000001.9:g.40195488G>A	NCBI36
NG_053084.1:g.7118G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_032793.5:c.228+8G>A MANE Select	NP_116182.2:n.228+8G>A
ENST00000372811.10:c.228+8G>A MANE Select	ENSP00000361898.6:n.228+8G>A
NM_001136493.2:c.228+8G>A	NP_001129965.1:n.228+8G>A
NM_001136493.3:c.228+8G>A	NP_001129965.1:n.228+8G>A
NM_001287808.1:c.-116+1844G>A	NP_001274737.1:n.-116+1844G>A
NM_001287808.2:c.-116+1844G>A	NP_001274737.1:n.-116+1844G>A
NM_001287809.1:c.117+8G>A	NP_001274738.1:n.117+8G>A
NM_001287809.2:c.117+8G>A	NP_001274738.1:n.117+8G>A
NM_001349821.1:c.222+8G>A	NP_001336750.1:n.222+8G>A
NM_001349821.2:c.222+8G>A	NP_001336750.1:n.222+8G>A
NM_001349822.1:c.228+8G>A	NP_001336751.1:n.228+8G>A
NM_001349822.2:c.228+8G>A	NP_001336751.1:n.228+8G>A
NM_001349823.1:c.-118+8G>A	NP_001336752.1:n.-118+8G>A
NM_001349823.2:c.-118+8G>A	NP_001336752.1:n.-118+8G>A
NM_032793.4:c.228+8G>A	NP_116182.2:n.228+8G>A
NR_109896.1:n.409+8G>A
NR_109896.2:n.376+8G>A
ENST00000372809.5:c.228+8G>A	ENSP00000361895.5:n.228+8G>A
ENST00000372811.9:c.228+8G>A	ENSP00000361898.5:n.228+8G>A
ENST00000420632.6:c.-116+1844G>A	ENSP00000391261.2:n.-116+1844G>A
ENST00000434861.5:c.222+8G>A	ENSP00000407606.1:n.222+8G>A
ENST00000483824.5:n.363+8G>A
XM_005271285.1:c.222+8G>A	XP_005271342.1:n.222+8G>A
XM_011542312.1:c.228+8G>A	XP_011540614.1:n.228+8G>A
XR_946783.1:n.376+8G>A