Canonical Allele Identifier: CA788687

Gene: MFSD2A

Linked Data

• dbSNP Id: rs377407995
• ExAC: 1:40431224 G / A
• gnomAD v2: 1-40431224-G-A
• gnomAD v3: 1-39965552-G-A
• gnomAD v4: 1-39965552-G-A
• MyVariant Identifiers: chr1:g.40431224G>A (hg19) ; chr1:g.39965552G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39965552G>A , CM000663.2:g.39965552G>A	GRCh38
NC_000001.10:g.40431224G>A , CM000663.1:g.40431224G>A	GRCh37
NC_000001.9:g.40203811G>A	NCBI36
NG_053084.1:g.15441G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372811.10:c.556+3G>A MANE Select	ENSP00000361898.6:n.556+3G>A
ENST00000372809.5:c.595+3G>A	ENSP00000361895.5:n.595+3G>A
ENST00000372811.9:c.556+3G>A	ENSP00000361898.5:n.556+3G>A
ENST00000420632.6:c.88+3G>A	ENSP00000391261.2:n.88+3G>A
ENST00000434861.5:c.550+3G>A	ENSP00000407606.1:n.550+3G>A
ENST00000469745.5:n.468+3G>A
ENST00000480630.5:n.1203+3G>A
ENST00000483824.5:n.691+3G>A
NM_001136493.2:c.595+3G>A	NP_001129965.1:n.595+3G>A
NM_001287808.1:c.88+3G>A	NP_001274737.1:n.88+3G>A
NM_001287809.1:c.445+3G>A	NP_001274738.1:n.445+3G>A
NM_032793.4:c.556+3G>A	NP_116182.2:n.556+3G>A
NR_109896.1:n.737+3G>A
XM_005271285.1:c.550+3G>A	XP_005271342.1:n.550+3G>A
XM_011542312.1:c.556+3G>A	XP_011540614.1:n.556+3G>A
XR_946783.1:n.704+3G>A
NM_001349821.1:c.550+3G>A	NP_001336750.1:n.550+3G>A
NM_001349822.1:c.556+3G>A	NP_001336751.1:n.556+3G>A
NM_001349823.1:c.211+3G>A	NP_001336752.1:n.211+3G>A
NM_001136493.3:c.595+3G>A	NP_001129965.1:n.595+3G>A
NM_001287809.2:c.445+3G>A	NP_001274738.1:n.445+3G>A
NM_001349821.2:c.550+3G>A	NP_001336750.1:n.550+3G>A
NM_001349822.2:c.556+3G>A	NP_001336751.1:n.556+3G>A
NM_001349823.2:c.211+3G>A	NP_001336752.1:n.211+3G>A
NM_032793.5:c.556+3G>A MANE Select	NP_116182.2:n.556+3G>A
NR_109896.2:n.704+3G>A
NM_001287808.2:c.88+3G>A	NP_001274737.1:n.88+3G>A