Canonical Allele Identifier: CA339834766

Gene: MFSD2A

Linked Data

• dbSNP Id: rs369322802
• MyVariant Identifiers: chr1:g.40431167C>A (hg19) ; chr1:g.39965495C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39965495C>A , CM000663.2:g.39965495C>A	GRCh38
NC_000001.10:g.40431167C>A , CM000663.1:g.40431167C>A	GRCh37
NC_000001.9:g.40203754C>A	NCBI36
NG_053084.1:g.15384C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372811.10:c.502C>A MANE Select	ENSP00000361898.6:p.Leu168Ile
ENST00000372809.5:c.541C>A	ENSP00000361895.5:p.Leu181Ile
ENST00000372811.9:c.502C>A	ENSP00000361898.5:p.Leu168Ile
ENST00000420632.6:c.34C>A	ENSP00000391261.2:p.Leu12Ile
ENST00000434861.5:c.496C>A	ENSP00000407606.1:p.Leu166Ile
ENST00000469745.5:n.414C>A
ENST00000480630.5:n.1149C>A
ENST00000483824.5:n.637C>A
NM_001136493.2:c.541C>A	NP_001129965.1:p.Leu181Ile
NM_001287808.1:c.34C>A	NP_001274737.1:p.Leu12Ile
NM_001287809.1:c.391C>A	NP_001274738.1:p.Leu131Ile
NM_032793.4:c.502C>A	NP_116182.2:p.Leu168Ile
NR_109896.1:n.683C>A
XM_005271285.1:c.496C>A	XP_005271342.1:p.Leu166Ile
XM_011542312.1:c.502C>A	XP_011540614.1:p.Leu168Ile
XR_946783.1:n.650C>A
NM_001349821.1:c.496C>A	NP_001336750.1:p.Leu166Ile
NM_001349822.1:c.502C>A	NP_001336751.1:p.Leu168Ile
NM_001349823.1:c.157C>A	NP_001336752.1:p.Leu53Ile
NM_001136493.3:c.541C>A	NP_001129965.1:p.Leu181Ile
NM_001287809.2:c.391C>A	NP_001274738.1:p.Leu131Ile
NM_001349821.2:c.496C>A	NP_001336750.1:p.Leu166Ile
NM_001349822.2:c.502C>A	NP_001336751.1:p.Leu168Ile
NM_001349823.2:c.157C>A	NP_001336752.1:p.Leu53Ile
NM_032793.5:c.502C>A MANE Select	NP_116182.2:p.Leu168Ile
NR_109896.2:n.650C>A
NM_001287808.2:c.34C>A	NP_001274737.1:p.Leu12Ile