Canonical Allele Identifier: CA339834893

Gene: MFSD2A

Linked Data

• dbSNP Id: rs1403232214
• gnomAD v2: 1-40431188-G-A
• gnomAD v3: 1-39965516-G-A
• gnomAD v4: 1-39965516-G-A
• COSMIC: COSM909361
• MyVariant Identifiers: chr1:g.40431188G>A (hg19) ; chr1:g.39965516G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39965516G>A , CM000663.2:g.39965516G>A	GRCh38
NC_000001.10:g.40431188G>A , CM000663.1:g.40431188G>A	GRCh37
NC_000001.9:g.40203775G>A	NCBI36
NG_053084.1:g.15405G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372811.10:c.523G>A MANE Select	ENSP00000361898.6:p.Glu175Lys
ENST00000372809.5:c.562G>A	ENSP00000361895.5:p.Glu188Lys
ENST00000372811.9:c.523G>A	ENSP00000361898.5:p.Glu175Lys
ENST00000420632.6:c.55G>A	ENSP00000391261.2:p.Glu19Lys
ENST00000434861.5:c.517G>A	ENSP00000407606.1:p.Glu173Lys
ENST00000469745.5:n.435G>A
ENST00000480630.5:n.1170G>A
ENST00000483824.5:n.658G>A
NM_001136493.2:c.562G>A	NP_001129965.1:p.Glu188Lys
NM_001287808.1:c.55G>A	NP_001274737.1:p.Glu19Lys
NM_001287809.1:c.412G>A	NP_001274738.1:p.Glu138Lys
NM_032793.4:c.523G>A	NP_116182.2:p.Glu175Lys
NR_109896.1:n.704G>A
XM_005271285.1:c.517G>A	XP_005271342.1:p.Glu173Lys
XM_011542312.1:c.523G>A	XP_011540614.1:p.Glu175Lys
XR_946783.1:n.671G>A
NM_001349821.1:c.517G>A	NP_001336750.1:p.Glu173Lys
NM_001349822.1:c.523G>A	NP_001336751.1:p.Glu175Lys
NM_001349823.1:c.178G>A	NP_001336752.1:p.Glu60Lys
NM_001136493.3:c.562G>A	NP_001129965.1:p.Glu188Lys
NM_001287809.2:c.412G>A	NP_001274738.1:p.Glu138Lys
NM_001349821.2:c.517G>A	NP_001336750.1:p.Glu173Lys
NM_001349822.2:c.523G>A	NP_001336751.1:p.Glu175Lys
NM_001349823.2:c.178G>A	NP_001336752.1:p.Glu60Lys
NM_032793.5:c.523G>A MANE Select	NP_116182.2:p.Glu175Lys
NR_109896.2:n.671G>A
NM_001287808.2:c.55G>A	NP_001274737.1:p.Glu19Lys