Canonical Allele Identifier: CA1164197507
Gene: MFSD2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.39968099A>T , CM000663.2:g.39968099A>T GRCh38
NC_000001.10:g.40433771A>T , CM000663.1:g.40433771A>T GRCh37
NC_000001.9:g.40206358A>T NCBI36
NG_053084.1:g.17988A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372811.10:c.1208+183A>T MANE Select ENSP00000361898.6:n.1208+183A>T
ENST00000372809.5:c.1247+183A>T ENSP00000361895.5:n.1247+183A>T
ENST00000372811.9:c.1208+183A>T ENSP00000361898.5:n.1208+183A>T
ENST00000420632.6:c.740+183A>T ENSP00000391261.2:n.740+183A>T
ENST00000459917.1:n.434+183A>T
ENST00000480630.5:n.1649+183A>T
ENST00000481612.1:n.481A>T
ENST00000483824.5:n.1147-235A>T
ENST00000491515.5:n.525+183A>T
NM_001136493.2:c.1247+183A>T NP_001129965.1:n.1247+183A>T
NM_001287808.1:c.740+183A>T NP_001274737.1:n.740+183A>T
NM_001287809.1:c.1091+183A>T NP_001274738.1:n.1091+183A>T
NM_032793.4:c.1208+183A>T NP_116182.2:n.1208+183A>T
NR_109896.1:n.1193-235A>T
XM_005271285.1:c.1202+183A>T XP_005271342.1:n.1202+183A>T
XM_011542312.1:c.1124+183A>T XP_011540614.1:n.1124+183A>T
XR_946783.1:n.1150+183A>T
NM_001349821.1:c.1202+183A>T NP_001336750.1:n.1202+183A>T
NM_001349822.1:c.1124+183A>T NP_001336751.1:n.1124+183A>T
NM_001349823.1:c.863+183A>T NP_001336752.1:n.863+183A>T
NM_001136493.3:c.1247+183A>T NP_001129965.1:n.1247+183A>T
NM_001287809.2:c.1091+183A>T NP_001274738.1:n.1091+183A>T
NM_001349821.2:c.1202+183A>T NP_001336750.1:n.1202+183A>T
NM_001349822.2:c.1124+183A>T NP_001336751.1:n.1124+183A>T
NM_001349823.2:c.863+183A>T NP_001336752.1:n.863+183A>T
NM_032793.5:c.1208+183A>T MANE Select NP_116182.2:n.1208+183A>T
NR_109896.2:n.1160-235A>T
NM_001287808.2:c.740+183A>T NP_001274737.1:n.740+183A>T