Canonical Allele Identifier: CA2645084104
Gene: MFSD2A HGNC NCBI

Linked Data

gnomAD v4: 1-39965454-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.39965454C>T , CM000663.2:g.39965454C>T GRCh38
NC_000001.10:g.40431126C>T , CM000663.1:g.40431126C>T GRCh37
NC_000001.9:g.40203713C>T NCBI36
NG_053084.1:g.15343C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372811.10:c.478-17C>T MANE Select ENSP00000361898.6:n.478-17C>T
ENST00000372809.5:c.517-17C>T ENSP00000361895.5:n.517-17C>T
ENST00000372811.9:c.478-17C>T ENSP00000361898.5:n.478-17C>T
ENST00000420632.6:c.10-17C>T ENSP00000391261.2:n.10-17C>T
ENST00000434861.5:c.472-17C>T ENSP00000407606.1:n.472-17C>T
ENST00000469745.5:n.390-17C>T
ENST00000480630.5:n.1125-17C>T
ENST00000483824.5:n.613-17C>T
NM_001136493.2:c.517-17C>T NP_001129965.1:n.517-17C>T
NM_001287808.1:c.10-17C>T NP_001274737.1:n.10-17C>T
NM_001287809.1:c.367-17C>T NP_001274738.1:n.367-17C>T
NM_032793.4:c.478-17C>T NP_116182.2:n.478-17C>T
NR_109896.1:n.659-17C>T
XM_005271285.1:c.472-17C>T XP_005271342.1:n.472-17C>T
XM_011542312.1:c.478-17C>T XP_011540614.1:n.478-17C>T
XR_946783.1:n.626-17C>T
NM_001349821.1:c.472-17C>T NP_001336750.1:n.472-17C>T
NM_001349822.1:c.478-17C>T NP_001336751.1:n.478-17C>T
NM_001349823.1:c.133-17C>T NP_001336752.1:n.133-17C>T
NM_001136493.3:c.517-17C>T NP_001129965.1:n.517-17C>T
NM_001287809.2:c.367-17C>T NP_001274738.1:n.367-17C>T
NM_001349821.2:c.472-17C>T NP_001336750.1:n.472-17C>T
NM_001349822.2:c.478-17C>T NP_001336751.1:n.478-17C>T
NM_001349823.2:c.133-17C>T NP_001336752.1:n.133-17C>T
NM_032793.5:c.478-17C>T MANE Select NP_116182.2:n.478-17C>T
NR_109896.2:n.626-17C>T
NM_001287808.2:c.10-17C>T NP_001274737.1:n.10-17C>T