Canonical Allele Identifier: CA339835048

Gene: MFSD2A

Linked Data

• COSMIC: COSM909362
• MyVariant Identifiers: chr1:g.40431207C>A (hg19) ; chr1:g.39965535C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39965535C>A , CM000663.2:g.39965535C>A	GRCh38
NC_000001.10:g.40431207C>A , CM000663.1:g.40431207C>A	GRCh37
NC_000001.9:g.40203794C>A	NCBI36
NG_053084.1:g.15424C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372811.10:c.542C>A MANE Select	ENSP00000361898.6:p.Ser181Tyr
ENST00000372809.5:c.581C>A	ENSP00000361895.5:p.Ser194Tyr
ENST00000372811.9:c.542C>A	ENSP00000361898.5:p.Ser181Tyr
ENST00000420632.6:c.74C>A	ENSP00000391261.2:p.Ser25Tyr
ENST00000434861.5:c.536C>A	ENSP00000407606.1:p.Ser179Tyr
ENST00000469745.5:n.454C>A
ENST00000480630.5:n.1189C>A
ENST00000483824.5:n.677C>A
NM_001136493.2:c.581C>A	NP_001129965.1:p.Ser194Tyr
NM_001287808.1:c.74C>A	NP_001274737.1:p.Ser25Tyr
NM_001287809.1:c.431C>A	NP_001274738.1:p.Ser144Tyr
NM_032793.4:c.542C>A	NP_116182.2:p.Ser181Tyr
NR_109896.1:n.723C>A
XM_005271285.1:c.536C>A	XP_005271342.1:p.Ser179Tyr
XM_011542312.1:c.542C>A	XP_011540614.1:p.Ser181Tyr
XR_946783.1:n.690C>A
NM_001349821.1:c.536C>A	NP_001336750.1:p.Ser179Tyr
NM_001349822.1:c.542C>A	NP_001336751.1:p.Ser181Tyr
NM_001349823.1:c.197C>A	NP_001336752.1:p.Ser66Tyr
NM_001136493.3:c.581C>A	NP_001129965.1:p.Ser194Tyr
NM_001287809.2:c.431C>A	NP_001274738.1:p.Ser144Tyr
NM_001349821.2:c.536C>A	NP_001336750.1:p.Ser179Tyr
NM_001349822.2:c.542C>A	NP_001336751.1:p.Ser181Tyr
NM_001349823.2:c.197C>A	NP_001336752.1:p.Ser66Tyr
NM_032793.5:c.542C>A MANE Select	NP_116182.2:p.Ser181Tyr
NR_109896.2:n.690C>A
NM_001287808.2:c.74C>A	NP_001274737.1:p.Ser25Tyr