Canonical Allele Identifier: CA16042266
Gene: MFSD2A HGNC NCBI

Linked Data

ClinVar Variation Id: 372260
ClinVar RCV Id: RCV000412568
dbSNP Id: rs1057517688
gnomAD v2: 1-40431005-C-T
gnomAD v4: 1-39965333-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.39965333C>T , CM000663.2:g.39965333C>T GRCh38
NC_000001.10:g.40431005C>T , CM000663.1:g.40431005C>T GRCh37
NC_000001.9:g.40203592C>T NCBI36
NG_053084.1:g.15222C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000372811.10:c.476C>T MANE Select ENSP00000361898.6:p.Thr159Met
ENST00000372809.5:c.515C>T ENSP00000361895.5:p.Thr172Met
ENST00000372811.9:c.476C>T ENSP00000361898.5:p.Thr159Met
ENST00000420632.6:c.8C>T ENSP00000391261.2:p.Thr3Met
ENST00000434861.5:c.470C>T ENSP00000407606.1:p.Thr157Met
ENST00000469745.5:n.388C>T
ENST00000480630.5:n.1123C>T
ENST00000483824.5:n.611C>T
NM_001136493.2:c.515C>T NP_001129965.1:p.Thr172Met
NM_001287808.1:c.8C>T NP_001274737.1:p.Thr3Met
NM_001287809.1:c.365C>T NP_001274738.1:p.Thr122Met
NM_032793.4:c.476C>T NP_116182.2:p.Thr159Met
NR_109896.1:n.657C>T
XM_005271285.1:c.470C>T XP_005271342.1:p.Thr157Met
XM_011542312.1:c.476C>T XP_011540614.1:p.Thr159Met
XR_946783.1:n.624C>T
NM_001349821.1:c.470C>T NP_001336750.1:p.Thr157Met
NM_001349822.1:c.476C>T NP_001336751.1:p.Thr159Met
NM_001349823.1:c.131C>T NP_001336752.1:p.Thr44Met
NM_001136493.3:c.515C>T NP_001129965.1:p.Thr172Met
NM_001287809.2:c.365C>T NP_001274738.1:p.Thr122Met
NM_001349821.2:c.470C>T NP_001336750.1:p.Thr157Met
NM_001349822.2:c.476C>T NP_001336751.1:p.Thr159Met
NM_001349823.2:c.131C>T NP_001336752.1:p.Thr44Met
NM_032793.5:c.476C>T MANE Select NP_116182.2:p.Thr159Met
NR_109896.2:n.624C>T
NM_001287808.2:c.8C>T NP_001274737.1:p.Thr3Met