Canonical Allele Identifier: CA339834762

Gene: MFSD2A

Linked Data

• ClinVar Variation Id: 2241768
• ClinVar RCV Id: RCV002767273
• gnomAD v4: 1-39965493-C-T
• MyVariant Identifiers: chr1:g.40431165C>T (hg19) ; chr1:g.39965493C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39965493C>T , CM000663.2:g.39965493C>T	GRCh38
NC_000001.10:g.40431165C>T , CM000663.1:g.40431165C>T	GRCh37
NC_000001.9:g.40203752C>T	NCBI36
NG_053084.1:g.15382C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372811.10:c.500C>T MANE Select	ENSP00000361898.6:p.Ala167Val
ENST00000372809.5:c.539C>T	ENSP00000361895.5:p.Ala180Val
ENST00000372811.9:c.500C>T	ENSP00000361898.5:p.Ala167Val
ENST00000420632.6:c.32C>T	ENSP00000391261.2:p.Ala11Val
ENST00000434861.5:c.494C>T	ENSP00000407606.1:p.Ala165Val
ENST00000469745.5:n.412C>T
ENST00000480630.5:n.1147C>T
ENST00000483824.5:n.635C>T
NM_001136493.2:c.539C>T	NP_001129965.1:p.Ala180Val
NM_001287808.1:c.32C>T	NP_001274737.1:p.Ala11Val
NM_001287809.1:c.389C>T	NP_001274738.1:p.Ala130Val
NM_032793.4:c.500C>T	NP_116182.2:p.Ala167Val
NR_109896.1:n.681C>T
XM_005271285.1:c.494C>T	XP_005271342.1:p.Ala165Val
XM_011542312.1:c.500C>T	XP_011540614.1:p.Ala167Val
XR_946783.1:n.648C>T
NM_001349821.1:c.494C>T	NP_001336750.1:p.Ala165Val
NM_001349822.1:c.500C>T	NP_001336751.1:p.Ala167Val
NM_001349823.1:c.155C>T	NP_001336752.1:p.Ala52Val
NM_001136493.3:c.539C>T	NP_001129965.1:p.Ala180Val
NM_001287809.2:c.389C>T	NP_001274738.1:p.Ala130Val
NM_001349821.2:c.494C>T	NP_001336750.1:p.Ala165Val
NM_001349822.2:c.500C>T	NP_001336751.1:p.Ala167Val
NM_001349823.2:c.155C>T	NP_001336752.1:p.Ala52Val
NM_032793.5:c.500C>T MANE Select	NP_116182.2:p.Ala167Val
NR_109896.2:n.648C>T
NM_001287808.2:c.32C>T	NP_001274737.1:p.Ala11Val