Canonical Allele Identifier: CA340477

Gene: EIF2B5

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140499G>C , CM000665.2:g.184140499G>C	GRCh38
NC_000003.11:g.183858287G>C , CM000665.1:g.183858287G>C	GRCh37
NC_000003.10:g.185340981G>C	NCBI36
NG_015826.1:g.10478G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.948G>C
ENST00000468748.7:n.1168G>C
ENST00000484154.2:n.1387-1426G>C
ENST00000491008.6:n.1673G>C
ENST00000492226.2:n.1182G>C
ENST00000492773.6:c.679G>C
ENST00000647636.1:c.925G>C	ENSP00000497505.1:p.Val309Leu
ENST00000647909.1:c.949G>C	ENSP00000498164.1:p.Val317Leu
ENST00000648145.1:c.693G>C
ENST00000648189.1:c.739G>C
ENST00000648256.1:c.897G>C	ENSP00000497356.1:n.897G>C
ENST00000648314.1:c.*44G>C	ENSP00000496920.1:n.*44G>C
ENST00000648599.1:c.*208G>C	ENSP00000497159.1:n.*208G>C
ENST00000648630.1:c.919G>C	ENSP00000497887.1:p.Val307Leu
ENST00000648682.1:c.925G>C	ENSP00000498185.1:p.Val309Leu
ENST00000648882.1:c.*751G>C	ENSP00000497603.1:n.*751G>C
ENST00000648890.1:c.925G>C	ENSP00000497503.1:p.Val309Leu
ENST00000648915.2:c.925G>C MANE Select	ENSP00000497160.1:p.Val309Leu
ENST00000649545.1:c.577+342G>C
ENST00000649688.1:c.*208G>C	ENSP00000497097.1:n.*208G>C
ENST00000649814.1:n.974G>C
ENST00000650270.1:c.792G>C
ENST00000273783.7:c.925G>C	ENSP00000273783.3:p.Val309Leu
ENST00000432982.5:c.246-1738G>C
ENST00000444495.1:c.925G>C	ENSP00000409142.1:p.Val309Leu
ENST00000468748.5:n.638G>C
ENST00000479833.1:n.241G>C
ENST00000481054.5:n.1019G>C
ENST00000491144.5:n.1429G>C
ENST00000493740.1:n.155G>C
NM_003907.2:c.925G>C	NP_003898.2:p.Val309Leu
XM_011513265.1:c.175G>C	XP_011511567.1:p.Val59Leu
XM_011513266.1:c.88G>C	XP_011511568.1:p.Val30Leu
XR_924208.1:n.1876G>C
NM_003907.3:c.925G>C MANE Select	NP_003898.2:p.Val309Leu
XM_011513266.3:c.88G>C	XP_011511568.1:p.Val30Leu
XR_001740352.2:n.1288G>C
XR_001740353.2:n.1288G>C
XR_924208.2:n.1288G>C