Canonical Allele Identifier: CA343821

Gene: EIF2B5

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140122G>C , CM000665.2:g.184140122G>C	GRCh38
NC_000003.11:g.183857910G>C , CM000665.1:g.183857910G>C	GRCh37
NC_000003.10:g.185340604G>C	NCBI36
NG_015826.1:g.10101G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.831G>C
ENST00000468748.7:n.791G>C
ENST00000484154.2:n.1387-1803G>C
ENST00000491008.6:n.1556G>C
ENST00000492226.2:n.805G>C
ENST00000492773.6:c.562G>C
ENST00000647636.1:c.808G>C	ENSP00000497505.1:p.Asp270His
ENST00000647909.1:c.832G>C	ENSP00000498164.1:p.Asp278His
ENST00000648145.1:c.576G>C
ENST00000648189.1:c.558G>C
ENST00000648256.1:c.780G>C	ENSP00000497356.1:p.Glu260Asp
ENST00000648314.1:c.808G>C	ENSP00000496920.1:p.Asp270His
ENST00000648599.1:c.*91G>C	ENSP00000497159.1:n.*91G>C
ENST00000648630.1:c.802G>C	ENSP00000497887.1:p.Asp268His
ENST00000648682.1:c.808G>C	ENSP00000498185.1:p.Asp270His
ENST00000648882.1:c.*634G>C	ENSP00000497603.1:n.*634G>C
ENST00000648890.1:c.808G>C	ENSP00000497503.1:p.Asp270His
ENST00000648915.2:c.808G>C MANE Select	ENSP00000497160.1:p.Asp270His
ENST00000649545.1:c.542G>C
ENST00000649688.1:c.*91G>C	ENSP00000497097.1:n.*91G>C
ENST00000649814.1:n.857G>C
ENST00000650270.1:c.675G>C
ENST00000273783.7:c.808G>C	ENSP00000273783.3:p.Asp270His
ENST00000432982.5:c.246-2115G>C
ENST00000444495.1:c.808G>C	ENSP00000409142.1:p.Asp270His
ENST00000468748.5:n.261G>C
ENST00000479833.1:n.124G>C
ENST00000481054.5:n.902G>C
ENST00000491008.5:n.772G>C
ENST00000491144.5:n.1248G>C
NM_003907.2:c.808G>C	NP_003898.2:p.Asp270His
XM_011513265.1:c.58G>C	XP_011511567.1:p.Asp20His
XR_924208.1:n.1759G>C
NM_003907.3:c.808G>C MANE Select	NP_003898.2:p.Asp270His
XM_011513266.3:c.-94G>C	XP_011511568.1:n.-94G>C
XR_001740352.2:n.1171G>C
XR_001740353.2:n.1171G>C
XR_924208.2:n.1171G>C