Canonical Allele Identifier: CA788674

Gene: MFSD2A

Linked Data

• dbSNP Id: rs376773716
• ExAC: 1:40431163 G / A
• gnomAD v2: 1-40431163-G-A
• gnomAD v3: 1-39965491-G-A
• gnomAD v4: 1-39965491-G-A
• MyVariant Identifiers: chr1:g.40431163G>A (hg19) ; chr1:g.39965491G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39965491G>A , CM000663.2:g.39965491G>A	GRCh38
NC_000001.10:g.40431163G>A , CM000663.1:g.40431163G>A	GRCh37
NC_000001.9:g.40203750G>A	NCBI36
NG_053084.1:g.15380G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372811.10:c.498G>A MANE Select	ENSP00000361898.6:p.Ser166=
ENST00000372809.5:c.537G>A	ENSP00000361895.5:p.Ser179=
ENST00000372811.9:c.498G>A	ENSP00000361898.5:p.Ser166=
ENST00000420632.6:c.30G>A	ENSP00000391261.2:p.Ser10=
ENST00000434861.5:c.492G>A	ENSP00000407606.1:p.Ser164=
ENST00000469745.5:n.410G>A
ENST00000480630.5:n.1145G>A
ENST00000483824.5:n.633G>A
NM_001136493.2:c.537G>A	NP_001129965.1:p.Ser179=
NM_001287808.1:c.30G>A	NP_001274737.1:p.Ser10=
NM_001287809.1:c.387G>A	NP_001274738.1:p.Ser129=
NM_032793.4:c.498G>A	NP_116182.2:p.Ser166=
NR_109896.1:n.679G>A
XM_005271285.1:c.492G>A	XP_005271342.1:p.Ser164=
XM_011542312.1:c.498G>A	XP_011540614.1:p.Ser166=
XR_946783.1:n.646G>A
NM_001349821.1:c.492G>A	NP_001336750.1:p.Ser164=
NM_001349822.1:c.498G>A	NP_001336751.1:p.Ser166=
NM_001349823.1:c.153G>A	NP_001336752.1:p.Ser51=
NM_001136493.3:c.537G>A	NP_001129965.1:p.Ser179=
NM_001287809.2:c.387G>A	NP_001274738.1:p.Ser129=
NM_001349821.2:c.492G>A	NP_001336750.1:p.Ser164=
NM_001349822.2:c.498G>A	NP_001336751.1:p.Ser166=
NM_001349823.2:c.153G>A	NP_001336752.1:p.Ser51=
NM_032793.5:c.498G>A MANE Select	NP_116182.2:p.Ser166=
NR_109896.2:n.646G>A
NM_001287808.2:c.30G>A	NP_001274737.1:p.Ser10=