Canonical Allele Identifier: CA2645084004
Gene: MFSD2A HGNC NCBI

Linked Data

gnomAD v4: 1-39965391-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.39965391G>A , CM000663.2:g.39965391G>A GRCh38
NC_000001.10:g.40431063G>A , CM000663.1:g.40431063G>A GRCh37
NC_000001.9:g.40203650G>A NCBI36
NG_053084.1:g.15280G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372811.10:c.477+57G>A MANE Select ENSP00000361898.6:n.477+57G>A
ENST00000372809.5:c.516+57G>A ENSP00000361895.5:n.516+57G>A
ENST00000372811.9:c.477+57G>A ENSP00000361898.5:n.477+57G>A
ENST00000420632.6:c.9+57G>A ENSP00000391261.2:n.9+57G>A
ENST00000434861.5:c.471+57G>A ENSP00000407606.1:n.471+57G>A
ENST00000469745.5:n.389+57G>A
ENST00000480630.5:n.1124+57G>A
ENST00000483824.5:n.612+57G>A
NM_001136493.2:c.516+57G>A NP_001129965.1:n.516+57G>A
NM_001287808.1:c.9+57G>A NP_001274737.1:n.9+57G>A
NM_001287809.1:c.366+57G>A NP_001274738.1:n.366+57G>A
NM_032793.4:c.477+57G>A NP_116182.2:n.477+57G>A
NR_109896.1:n.658+57G>A
XM_005271285.1:c.471+57G>A XP_005271342.1:n.471+57G>A
XM_011542312.1:c.477+57G>A XP_011540614.1:n.477+57G>A
XR_946783.1:n.625+57G>A
NM_001349821.1:c.471+57G>A NP_001336750.1:n.471+57G>A
NM_001349822.1:c.477+57G>A NP_001336751.1:n.477+57G>A
NM_001349823.1:c.132+57G>A NP_001336752.1:n.132+57G>A
NM_001136493.3:c.516+57G>A NP_001129965.1:n.516+57G>A
NM_001287809.2:c.366+57G>A NP_001274738.1:n.366+57G>A
NM_001349821.2:c.471+57G>A NP_001336750.1:n.471+57G>A
NM_001349822.2:c.477+57G>A NP_001336751.1:n.477+57G>A
NM_001349823.2:c.132+57G>A NP_001336752.1:n.132+57G>A
NM_032793.5:c.477+57G>A MANE Select NP_116182.2:n.477+57G>A
NR_109896.2:n.625+57G>A
NM_001287808.2:c.9+57G>A NP_001274737.1:n.9+57G>A