Canonical Allele Identifier: CA1425889724

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184144175T= , CM000665.2:g.184144175T=	GRCh38
NC_000003.11:g.183861963T= , CM000665.1:g.183861963T=	GRCh37
NC_000003.10:g.185344657T=	NCBI36
NG_015826.1:g.14154T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.2268T=
ENST00000468748.7:n.3021T=
ENST00000484154.2:n.3008T=
ENST00000491008.6:n.2710T=
ENST00000492226.2:n.3045T=
ENST00000492773.6:c.1700T=
ENST00000647636.1:c.*795T=	ENSP00000497505.1:n.*795T=
ENST00000647909.1:c.1970T=	ENSP00000498164.1:p.Ile657=
ENST00000648145.1:c.1738T=
ENST00000648189.1:c.1780T=
ENST00000648256.1:c.1918T=	ENSP00000497356.1:n.1918T=
ENST00000648314.1:c.*1335T=	ENSP00000496920.1:n.*1335T=
ENST00000648599.1:c.*1229T=	ENSP00000497159.1:n.*1229T=
ENST00000648630.1:c.2124T=	ENSP00000497887.1:n.2124T=
ENST00000648682.1:c.*1085T=	ENSP00000498185.1:n.*1085T=
ENST00000648882.1:c.*1772T=	ENSP00000497603.1:n.*1772T=
ENST00000648890.1:c.*369T=	ENSP00000497503.1:n.*369T=
ENST00000648915.2:c.1946T= MANE Select	ENSP00000497160.1:p.Ile649=
ENST00000649545.1:c.1605T=
ENST00000649688.1:c.*1538T=	ENSP00000497097.1:n.*1538T=
ENST00000649814.1:n.2544T=
ENST00000650270.1:c.1824T=
ENST00000273783.7:c.1946T=	ENSP00000273783.3:p.Ile649=
ENST00000444495.1:c.1946T=	ENSP00000409142.1:p.Ile649=
ENST00000465218.2:n.728T=
ENST00000481054.5:n.2872T=
ENST00000491144.5:n.2450T=
ENST00000492226.1:n.122T=
NM_003907.2:c.1946T=	NP_003898.2:p.Ile649=
XM_011513265.1:c.1196T=	XP_011511567.1:p.Ile399=
XM_011513266.1:c.1109T=	XP_011511568.1:p.Ile370=
XR_924208.1:n.2913T=
NM_003907.3:c.1946T= MANE Select	NP_003898.2:p.Ile649=
XM_011513266.3:c.1109T=	XP_011511568.1:p.Ile370=
XR_001740352.2:n.2320T=
XR_001740353.2:n.2336T=
XR_924208.2:n.2325T=