Canonical Allele Identifier: CA355386602

Gene: EIF2B5

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184141925G>C , CM000665.2:g.184141925G>C	GRCh38
NC_000003.11:g.183859713G>C , CM000665.1:g.183859713G>C	GRCh37
NC_000003.10:g.185342407G>C	NCBI36
NG_015826.1:g.11904G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1180G>C
ENST00000468748.7:n.1400G>C
ENST00000484154.2:n.1387G>C
ENST00000491008.6:n.1905G>C
ENST00000492226.2:n.1424G>C
ENST00000492773.6:c.911G>C
ENST00000647636.1:c.*6G>C	ENSP00000497505.1:n.*6G>C
ENST00000647909.1:c.1181G>C	ENSP00000498164.1:p.Gly394Ala
ENST00000648145.1:c.929G>C
ENST00000648189.1:c.975G>C
ENST00000648256.1:c.1129G>C	ENSP00000497356.1:n.1129G>C
ENST00000648314.1:c.*276G>C	ENSP00000496920.1:n.*276G>C
ENST00000648599.1:c.*440G>C	ENSP00000497159.1:n.*440G>C
ENST00000648630.1:c.1036G>C	ENSP00000497887.1:p.Val346Leu
ENST00000648682.1:c.1167G>C	ENSP00000498185.1:p.Arg389Ser
ENST00000648882.1:c.*983G>C	ENSP00000497603.1:n.*983G>C
ENST00000648890.1:c.1157G>C	ENSP00000497503.1:p.Gly386Ala
ENST00000648915.2:c.1157G>C MANE Select	ENSP00000497160.1:p.Gly386Ala
ENST00000649545.1:c.578G>C
ENST00000649688.1:c.*450G>C	ENSP00000497097.1:n.*450G>C
ENST00000649814.1:n.1206G>C
ENST00000650270.1:c.1024G>C
ENST00000273783.7:c.1157G>C	ENSP00000273783.3:p.Gly386Ala
ENST00000432982.5:c.246-312G>C
ENST00000444495.1:c.1157G>C	ENSP00000409142.1:p.Gly386Ala
ENST00000479833.1:n.358G>C
ENST00000481054.5:n.1251G>C
ENST00000491144.5:n.1661G>C
ENST00000492773.5:n.40G>C
NM_003907.2:c.1157G>C	NP_003898.2:p.Gly386Ala
XM_011513265.1:c.407G>C	XP_011511567.1:p.Gly136Ala
XM_011513266.1:c.320G>C	XP_011511568.1:p.Gly107Ala
XR_924208.1:n.2108G>C
NM_003907.3:c.1157G>C MANE Select	NP_003898.2:p.Gly386Ala
XM_011513266.3:c.320G>C	XP_011511568.1:p.Gly107Ala
XR_001740352.2:n.1520G>C
XR_001740353.2:n.1520G>C
XR_924208.2:n.1520G>C