Canonical Allele Identifier: CA1238710504
Gene: MFSD2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.24024644A>C , CM000664.2:g.24024644A>C GRCh38
NC_000002.11:g.24247514A>C , CM000664.1:g.24247514A>C GRCh37
NC_000002.10:g.24101018A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000338315.6:c.1490+373A>C MANE Select ENSP00000342501.4:n.1490+373A>C
ENST00000669179.1:c.1574+373A>C ENSP00000499689.1:n.1574+373A>C
ENST00000338315.4:c.1490+373A>C ENSP00000342501.4:n.1490+373A>C
ENST00000453731.1:c.119+373A>C ENSP00000390490.1:n.119+373A>C
ENST00000469562.1:n.1269+373A>C
XM_005264301.3:c.1490+373A>C XP_005264358.1:n.1490+373A>C
NM_001346880.1:c.1490+373A>C NP_001333809.1:n.1490+373A>C
XM_017004063.2:c.1583+373A>C XP_016859552.1:n.1583+373A>C
XM_017004064.2:c.1568+373A>C XP_016859553.1:n.1568+373A>C
XM_017004065.2:c.1499+373A>C XP_016859554.1:n.1499+373A>C
XR_001738742.1:n.2952+373A>C
NM_001346880.2:c.1490+373A>C MANE Select NP_001333809.1:n.1490+373A>C