Canonical Allele Identifier: CA339834890

Gene: MFSD2A

Linked Data

• MyVariant Identifiers: chr1:g.40431188G>C (hg19) ; chr1:g.39965516G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372811.10:c.523G>C MANE Select	ENSP00000361898.6:p.Glu175Gln
ENST00000372809.5:c.562G>C	ENSP00000361895.5:p.Glu188Gln
ENST00000372811.9:c.523G>C	ENSP00000361898.5:p.Glu175Gln
ENST00000420632.6:c.55G>C	ENSP00000391261.2:p.Glu19Gln
ENST00000434861.5:c.517G>C	ENSP00000407606.1:p.Glu173Gln
ENST00000469745.5:n.435G>C
ENST00000480630.5:n.1170G>C
ENST00000483824.5:n.658G>C
NM_001136493.2:c.562G>C	NP_001129965.1:p.Glu188Gln
NM_001287808.1:c.55G>C	NP_001274737.1:p.Glu19Gln
NM_001287809.1:c.412G>C	NP_001274738.1:p.Glu138Gln
NM_032793.4:c.523G>C	NP_116182.2:p.Glu175Gln
NR_109896.1:n.704G>C
XM_005271285.1:c.517G>C	XP_005271342.1:p.Glu173Gln
XM_011542312.1:c.523G>C	XP_011540614.1:p.Glu175Gln
XR_946783.1:n.671G>C
NM_001349821.1:c.517G>C	NP_001336750.1:p.Glu173Gln
NM_001349822.1:c.523G>C	NP_001336751.1:p.Glu175Gln
NM_001349823.1:c.178G>C	NP_001336752.1:p.Glu60Gln
NM_001136493.3:c.562G>C	NP_001129965.1:p.Glu188Gln
NM_001287809.2:c.412G>C	NP_001274738.1:p.Glu138Gln
NM_001349821.2:c.517G>C	NP_001336750.1:p.Glu173Gln
NM_001349822.2:c.523G>C	NP_001336751.1:p.Glu175Gln
NM_001349823.2:c.178G>C	NP_001336752.1:p.Glu60Gln
NM_032793.5:c.523G>C MANE Select	NP_116182.2:p.Glu175Gln
NR_109896.2:n.671G>C
NM_001287808.2:c.55G>C	NP_001274737.1:p.Glu19Gln