Canonical Allele Identifier: CA2495553705

Gene: MCFD2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46905486C= , CM000664.2:g.46905486C=	GRCh38
NC_000002.11:g.47132625C= , CM000664.1:g.47132625C=	GRCh37
NC_000002.10:g.46986129C=	NCBI36
NG_016428.2:g.41370G= , LRG_566:g.41370G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319466.9:c.418G= MANE Select	ENSP00000317271.4:p.Glu140=
ENST00000649435.1:c.*84G=	ENSP00000498024.1:n.*84G=
ENST00000319466.8:c.418G=	ENSP00000317271.4:p.Glu140=
ENST00000409105.5:c.418G=	ENSP00000386651.1:p.Glu140=
ENST00000409147.1:c.262G=	ENSP00000387082.1:p.Glu88=
ENST00000409207.5:c.418G=	ENSP00000386386.1:p.Glu140=
ENST00000409218.5:c.418G=	ENSP00000386261.1:p.Glu140=
ENST00000409800.5:c.262G=	ENSP00000387202.1:p.Glu88=
ENST00000409913.5:c.262G=	ENSP00000386941.1:p.Glu88=
ENST00000409973.5:c.418G=	ENSP00000386279.1:p.Glu140=
ENST00000412438.5:c.418G=	ENSP00000402717.1:p.Glu140=
ENST00000444761.6:c.361G=	ENSP00000394647.2:p.Glu121=
ENST00000470873.1:n.311G=
ENST00000493804.1:n.176G=
NM_001171506.2:c.418G= , LRG_566t1:c.418G=	NP_001164977.1:p.Glu140=
NM_001171507.2:c.418G= , LRG_566t2:c.418G=	NP_001164978.1:p.Glu140=
NM_001171508.2:c.418G= , LRG_566t3:c.418G=	NP_001164979.1:p.Glu140=
NM_001171509.2:c.262G=	NP_001164980.1:p.Glu88=
NM_001171510.2:c.262G=	NP_001164981.1:p.Glu88=
NM_001171511.2:c.361G=	NP_001164982.1:p.Glu121=
NM_139279.5:c.418G= , LRG_566t4:c.418G=	NP_644808.1:p.Glu140=
NM_001171509.3:c.262G=	NP_001164980.1:p.Glu88=
NM_001171510.3:c.262G=	NP_001164981.1:p.Glu88=
NM_139279.6:c.418G= MANE Select	NP_644808.1:p.Glu140=
NM_001171511.3:c.361G=	NP_001164982.1:p.Glu121=