Canonical Allele Identifier: CA2495553716

Gene: MCFD2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46905508A= , CM000664.2:g.46905508A=	GRCh38
NC_000002.11:g.47132647A= , CM000664.1:g.47132647A=	GRCh37
NC_000002.10:g.46986151A=	NCBI36
NG_016428.2:g.41348T= , LRG_566:g.41348T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319466.9:c.396T= MANE Select	ENSP00000317271.4:p.Asn132=
ENST00000649435.1:c.*62T=	ENSP00000498024.1:n.*62T=
ENST00000319466.8:c.396T=	ENSP00000317271.4:p.Asn132=
ENST00000409105.5:c.396T=	ENSP00000386651.1:p.Asn132=
ENST00000409147.1:c.240T=	ENSP00000387082.1:p.Asn80=
ENST00000409207.5:c.396T=	ENSP00000386386.1:p.Asn132=
ENST00000409218.5:c.396T=	ENSP00000386261.1:p.Asn132=
ENST00000409800.5:c.240T=	ENSP00000387202.1:p.Asn80=
ENST00000409913.5:c.240T=	ENSP00000386941.1:p.Asn80=
ENST00000409973.5:c.396T=	ENSP00000386279.1:p.Asn132=
ENST00000412438.5:c.396T=	ENSP00000402717.1:p.Asn132=
ENST00000444761.6:c.339T=	ENSP00000394647.2:p.Asn113=
ENST00000470873.1:n.289T=
ENST00000493804.1:n.154T=
NM_001171506.2:c.396T= , LRG_566t1:c.396T=	NP_001164977.1:p.Asn132=
NM_001171507.2:c.396T= , LRG_566t2:c.396T=	NP_001164978.1:p.Asn132=
NM_001171508.2:c.396T= , LRG_566t3:c.396T=	NP_001164979.1:p.Asn132=
NM_001171509.2:c.240T=	NP_001164980.1:p.Asn80=
NM_001171510.2:c.240T=	NP_001164981.1:p.Asn80=
NM_001171511.2:c.339T=	NP_001164982.1:p.Asn113=
NM_139279.5:c.396T= , LRG_566t4:c.396T=	NP_644808.1:p.Asn132=
NM_001171509.3:c.240T=	NP_001164980.1:p.Asn80=
NM_001171510.3:c.240T=	NP_001164981.1:p.Asn80=
NM_139279.6:c.396T= MANE Select	NP_644808.1:p.Asn132=
NM_001171511.3:c.339T=	NP_001164982.1:p.Asn113=