Canonical Allele Identifier: CA355394499

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183861963T>G (hg19) ; chr3:g.184144175T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184144175T>G , CM000665.2:g.184144175T>G	GRCh38
NC_000003.11:g.183861963T>G , CM000665.1:g.183861963T>G	GRCh37
NC_000003.10:g.185344657T>G	NCBI36
NG_015826.1:g.14154T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.2268T>G
ENST00000468748.7:n.3021T>G
ENST00000484154.2:n.3008T>G
ENST00000491008.6:n.2710T>G
ENST00000492226.2:n.3045T>G
ENST00000492773.6:c.1700T>G
ENST00000647636.1:c.*795T>G	ENSP00000497505.1:n.*795T>G
ENST00000647909.1:c.1970T>G	ENSP00000498164.1:p.Ile657Ser
ENST00000648145.1:c.1738T>G
ENST00000648189.1:c.1780T>G
ENST00000648256.1:c.1918T>G	ENSP00000497356.1:n.1918T>G
ENST00000648314.1:c.*1335T>G	ENSP00000496920.1:n.*1335T>G
ENST00000648599.1:c.*1229T>G	ENSP00000497159.1:n.*1229T>G
ENST00000648630.1:c.2124T>G	ENSP00000497887.1:n.2124T>G
ENST00000648682.1:c.*1085T>G	ENSP00000498185.1:n.*1085T>G
ENST00000648882.1:c.*1772T>G	ENSP00000497603.1:n.*1772T>G
ENST00000648890.1:c.*369T>G	ENSP00000497503.1:n.*369T>G
ENST00000648915.2:c.1946T>G MANE Select	ENSP00000497160.1:p.Ile649Ser
ENST00000649545.1:c.1605T>G
ENST00000649688.1:c.*1538T>G	ENSP00000497097.1:n.*1538T>G
ENST00000649814.1:n.2544T>G
ENST00000650270.1:c.1824T>G
ENST00000273783.7:c.1946T>G	ENSP00000273783.3:p.Ile649Ser
ENST00000444495.1:c.1946T>G	ENSP00000409142.1:p.Ile649Ser
ENST00000465218.2:n.728T>G
ENST00000481054.5:n.2872T>G
ENST00000491144.5:n.2450T>G
ENST00000492226.1:n.122T>G
NM_003907.2:c.1946T>G	NP_003898.2:p.Ile649Ser
XM_011513265.1:c.1196T>G	XP_011511567.1:p.Ile399Ser
XM_011513266.1:c.1109T>G	XP_011511568.1:p.Ile370Ser
XR_924208.1:n.2913T>G
NM_003907.3:c.1946T>G MANE Select	NP_003898.2:p.Ile649Ser
XM_011513266.3:c.1109T>G	XP_011511568.1:p.Ile370Ser
XR_001740352.2:n.2320T>G
XR_001740353.2:n.2336T>G
XR_924208.2:n.2325T>G