Canonical Allele Identifier: CA1425882913

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137961C= , CM000665.2:g.184137961C=	GRCh38
NC_000003.11:g.183855749C= , CM000665.1:g.183855749C=	GRCh37
NC_000003.10:g.185338443C=	NCBI36
NG_015826.1:g.7940C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.593C=
ENST00000468748.7:n.553C=
ENST00000484154.2:n.1191C=
ENST00000491008.6:n.1318C=
ENST00000492226.2:n.567C=
ENST00000492773.6:c.302C=
ENST00000647636.1:c.570C=	ENSP00000497505.1:p.Pro190=
ENST00000647909.1:c.594C=	ENSP00000498164.1:p.Pro198=
ENST00000648145.1:c.338C=
ENST00000648189.1:c.320C=
ENST00000648256.1:c.519C=	ENSP00000497356.1:p.Pro173=
ENST00000648314.1:c.570C=	ENSP00000496920.1:p.Pro190=
ENST00000648599.1:c.570C=	ENSP00000497159.1:p.Pro190=
ENST00000648630.1:c.564C=	ENSP00000497887.1:p.Pro188=
ENST00000648682.1:c.570C=	ENSP00000498185.1:p.Pro190=
ENST00000648882.1:c.*396C=	ENSP00000497603.1:n.*396C=
ENST00000648890.1:c.570C=	ENSP00000497503.1:p.Pro190=
ENST00000648915.2:c.570C= MANE Select	ENSP00000497160.1:p.Pro190=
ENST00000649545.1:c.304C=
ENST00000649688.1:c.570C=	ENSP00000497097.1:p.Pro190=
ENST00000649814.1:n.619C=
ENST00000650270.1:c.437C=
ENST00000273783.7:c.570C=	ENSP00000273783.3:p.Pro190=
ENST00000432982.5:c.245+1286C=
ENST00000444495.1:c.570C=	ENSP00000409142.1:p.Pro190=
ENST00000468748.5:n.23C=
ENST00000481054.5:n.571C=
ENST00000491008.5:n.534C=
ENST00000491144.5:n.1010C=
ENST00000498831.1:n.525C=
NM_003907.2:c.570C=	NP_003898.2:p.Pro190=
XR_924208.1:n.1521C=
NM_003907.3:c.570C= MANE Select	NP_003898.2:p.Pro190=
XM_011513266.3:c.-332C=	XP_011511568.1:n.-332C=
XR_001740352.2:n.933C=
XR_001740353.2:n.933C=
XR_924208.2:n.933C=