Canonical Allele Identifier: CA355394502

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183861964T>G (hg19) ; chr3:g.184144176T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184144176T>G , CM000665.2:g.184144176T>G	GRCh38
NC_000003.11:g.183861964T>G , CM000665.1:g.183861964T>G	GRCh37
NC_000003.10:g.185344658T>G	NCBI36
NG_015826.1:g.14155T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.2269T>G
ENST00000468748.7:n.3022T>G
ENST00000484154.2:n.3009T>G
ENST00000491008.6:n.2711T>G
ENST00000492226.2:n.3046T>G
ENST00000492773.6:c.1701T>G
ENST00000647636.1:c.*796T>G	ENSP00000497505.1:n.*796T>G
ENST00000647909.1:c.1971T>G	ENSP00000498164.1:p.Ile657Met
ENST00000648145.1:c.1739T>G
ENST00000648189.1:c.1781T>G
ENST00000648256.1:c.1919T>G	ENSP00000497356.1:n.1919T>G
ENST00000648314.1:c.*1336T>G	ENSP00000496920.1:n.*1336T>G
ENST00000648599.1:c.*1230T>G	ENSP00000497159.1:n.*1230T>G
ENST00000648630.1:c.2125T>G	ENSP00000497887.1:n.2125T>G
ENST00000648682.1:c.*1086T>G	ENSP00000498185.1:n.*1086T>G
ENST00000648882.1:c.*1773T>G	ENSP00000497603.1:n.*1773T>G
ENST00000648890.1:c.*370T>G	ENSP00000497503.1:n.*370T>G
ENST00000648915.2:c.1947T>G MANE Select	ENSP00000497160.1:p.Ile649Met
ENST00000649545.1:c.1606T>G
ENST00000649688.1:c.*1539T>G	ENSP00000497097.1:n.*1539T>G
ENST00000649814.1:n.2545T>G
ENST00000650270.1:c.1825T>G
ENST00000273783.7:c.1947T>G	ENSP00000273783.3:p.Ile649Met
ENST00000444495.1:c.1947T>G	ENSP00000409142.1:p.Ile649Met
ENST00000465218.2:n.729T>G
ENST00000481054.5:n.2873T>G
ENST00000491144.5:n.2451T>G
ENST00000492226.1:n.123T>G
NM_003907.2:c.1947T>G	NP_003898.2:p.Ile649Met
XM_011513265.1:c.1197T>G	XP_011511567.1:p.Ile399Met
XM_011513266.1:c.1110T>G	XP_011511568.1:p.Ile370Met
XR_924208.1:n.2914T>G
NM_003907.3:c.1947T>G MANE Select	NP_003898.2:p.Ile649Met
XM_011513266.3:c.1110T>G	XP_011511568.1:p.Ile370Met
XR_001740352.2:n.2321T>G
XR_001740353.2:n.2337T>G
XR_924208.2:n.2326T>G