Canonical Allele Identifier: CA2495553709

Gene: MCFD2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46905496A= , CM000664.2:g.46905496A=	GRCh38
NC_000002.11:g.47132635A= , CM000664.1:g.47132635A=	GRCh37
NC_000002.10:g.46986139A=	NCBI36
NG_016428.2:g.41360T= , LRG_566:g.41360T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319466.9:c.408T= MANE Select	ENSP00000317271.4:p.Ile136=
ENST00000649435.1:c.*74T=	ENSP00000498024.1:n.*74T=
ENST00000319466.8:c.408T=	ENSP00000317271.4:p.Ile136=
ENST00000409105.5:c.408T=	ENSP00000386651.1:p.Ile136=
ENST00000409147.1:c.252T=	ENSP00000387082.1:p.Ile84=
ENST00000409207.5:c.408T=	ENSP00000386386.1:p.Ile136=
ENST00000409218.5:c.408T=	ENSP00000386261.1:p.Ile136=
ENST00000409800.5:c.252T=	ENSP00000387202.1:p.Ile84=
ENST00000409913.5:c.252T=	ENSP00000386941.1:p.Ile84=
ENST00000409973.5:c.408T=	ENSP00000386279.1:p.Ile136=
ENST00000412438.5:c.408T=	ENSP00000402717.1:p.Ile136=
ENST00000444761.6:c.351T=	ENSP00000394647.2:p.Ile117=
ENST00000470873.1:n.301T=
ENST00000493804.1:n.166T=
NM_001171506.2:c.408T= , LRG_566t1:c.408T=	NP_001164977.1:p.Ile136=
NM_001171507.2:c.408T= , LRG_566t2:c.408T=	NP_001164978.1:p.Ile136=
NM_001171508.2:c.408T= , LRG_566t3:c.408T=	NP_001164979.1:p.Ile136=
NM_001171509.2:c.252T=	NP_001164980.1:p.Ile84=
NM_001171510.2:c.252T=	NP_001164981.1:p.Ile84=
NM_001171511.2:c.351T=	NP_001164982.1:p.Ile117=
NM_139279.5:c.408T= , LRG_566t4:c.408T=	NP_644808.1:p.Ile136=
NM_001171509.3:c.252T=	NP_001164980.1:p.Ile84=
NM_001171510.3:c.252T=	NP_001164981.1:p.Ile84=
NM_139279.6:c.408T= MANE Select	NP_644808.1:p.Ile136=
NM_001171511.3:c.351T=	NP_001164982.1:p.Ile117=