Canonical Allele Identifier: CA88842892

Gene: EIF2B5

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140590G>C , CM000665.2:g.184140590G>C	GRCh38
NC_000003.11:g.183858378G>C , CM000665.1:g.183858378G>C	GRCh37
NC_000003.10:g.185341072G>C	NCBI36
NG_015826.1:g.10569G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1039G>C
ENST00000468748.7:n.1259G>C
ENST00000484154.2:n.1387-1335G>C
ENST00000491008.6:n.1764G>C
ENST00000492226.2:n.1273G>C
ENST00000492773.6:c.770G>C
ENST00000647636.1:c.1016G>C	ENSP00000497505.1:p.Arg339Pro
ENST00000647909.1:c.1040G>C	ENSP00000498164.1:p.Arg347Pro
ENST00000648145.1:c.784G>C
ENST00000648189.1:c.830G>C
ENST00000648256.1:c.988G>C	ENSP00000497356.1:n.988G>C
ENST00000648314.1:c.*135G>C	ENSP00000496920.1:n.*135G>C
ENST00000648599.1:c.*299G>C	ENSP00000497159.1:n.*299G>C
ENST00000648630.1:c.1010G>C	ENSP00000497887.1:p.Arg337Pro
ENST00000648682.1:c.1016G>C	ENSP00000498185.1:p.Arg339Pro
ENST00000648882.1:c.*842G>C	ENSP00000497603.1:n.*842G>C
ENST00000648890.1:c.1016G>C	ENSP00000497503.1:p.Arg339Pro
ENST00000648915.2:c.1016G>C MANE Select	ENSP00000497160.1:p.Arg339Pro
ENST00000649545.1:c.577+433G>C
ENST00000649688.1:c.*299G>C	ENSP00000497097.1:n.*299G>C
ENST00000649814.1:n.1065G>C
ENST00000650270.1:c.883G>C
ENST00000273783.7:c.1016G>C	ENSP00000273783.3:p.Arg339Pro
ENST00000432982.5:c.246-1647G>C
ENST00000444495.1:c.1016G>C	ENSP00000409142.1:p.Arg339Pro
ENST00000479833.1:n.332G>C
ENST00000481054.5:n.1110G>C
ENST00000491144.5:n.1520G>C
ENST00000493740.1:n.246G>C
NM_003907.2:c.1016G>C	NP_003898.2:p.Arg339Pro
XM_011513265.1:c.266G>C	XP_011511567.1:p.Arg89Pro
XM_011513266.1:c.179G>C	XP_011511568.1:p.Arg60Pro
XR_924208.1:n.1967G>C
NM_003907.3:c.1016G>C MANE Select	NP_003898.2:p.Arg339Pro
XM_011513266.3:c.179G>C	XP_011511568.1:p.Arg60Pro
XR_001740352.2:n.1379G>C
XR_001740353.2:n.1379G>C
XR_924208.2:n.1379G>C