Canonical Allele Identifier: CA788680

Gene: MFSD2A

Linked Data

• dbSNP Id: rs759109413
• ExAC: 1:40431207 C / G
• gnomAD v2: 1-40431207-C-G
• gnomAD v3: 1-39965535-C-G
• gnomAD v4: 1-39965535-C-G
• MyVariant Identifiers: chr1:g.40431207C>G (hg19) ; chr1:g.39965535C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39965535C>G , CM000663.2:g.39965535C>G	GRCh38
NC_000001.10:g.40431207C>G , CM000663.1:g.40431207C>G	GRCh37
NC_000001.9:g.40203794C>G	NCBI36
NG_053084.1:g.15424C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372811.10:c.542C>G MANE Select	ENSP00000361898.6:p.Ser181Cys
ENST00000372809.5:c.581C>G	ENSP00000361895.5:p.Ser194Cys
ENST00000372811.9:c.542C>G	ENSP00000361898.5:p.Ser181Cys
ENST00000420632.6:c.74C>G	ENSP00000391261.2:p.Ser25Cys
ENST00000434861.5:c.536C>G	ENSP00000407606.1:p.Ser179Cys
ENST00000469745.5:n.454C>G
ENST00000480630.5:n.1189C>G
ENST00000483824.5:n.677C>G
NM_001136493.2:c.581C>G	NP_001129965.1:p.Ser194Cys
NM_001287808.1:c.74C>G	NP_001274737.1:p.Ser25Cys
NM_001287809.1:c.431C>G	NP_001274738.1:p.Ser144Cys
NM_032793.4:c.542C>G	NP_116182.2:p.Ser181Cys
NR_109896.1:n.723C>G
XM_005271285.1:c.536C>G	XP_005271342.1:p.Ser179Cys
XM_011542312.1:c.542C>G	XP_011540614.1:p.Ser181Cys
XR_946783.1:n.690C>G
NM_001349821.1:c.536C>G	NP_001336750.1:p.Ser179Cys
NM_001349822.1:c.542C>G	NP_001336751.1:p.Ser181Cys
NM_001349823.1:c.197C>G	NP_001336752.1:p.Ser66Cys
NM_001136493.3:c.581C>G	NP_001129965.1:p.Ser194Cys
NM_001287809.2:c.431C>G	NP_001274738.1:p.Ser144Cys
NM_001349821.2:c.536C>G	NP_001336750.1:p.Ser179Cys
NM_001349822.2:c.542C>G	NP_001336751.1:p.Ser181Cys
NM_001349823.2:c.197C>G	NP_001336752.1:p.Ser66Cys
NM_032793.5:c.542C>G MANE Select	NP_116182.2:p.Ser181Cys
NR_109896.2:n.690C>G
NM_001287808.2:c.74C>G	NP_001274737.1:p.Ser25Cys