Canonical Allele Identifier: CA355386669

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183859731A>T (hg19) ; chr3:g.184141943A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184141943A>T , CM000665.2:g.184141943A>T	GRCh38
NC_000003.11:g.183859731A>T , CM000665.1:g.183859731A>T	GRCh37
NC_000003.10:g.185342425A>T	NCBI36
NG_015826.1:g.11922A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1198A>T
ENST00000468748.7:n.1418A>T
ENST00000484154.2:n.1405A>T
ENST00000491008.6:n.1923A>T
ENST00000492226.2:n.1442A>T
ENST00000492773.6:c.929A>T
ENST00000647636.1:c.*24A>T	ENSP00000497505.1:n.*24A>T
ENST00000647909.1:c.1199A>T	ENSP00000498164.1:p.Asp400Val
ENST00000648145.1:c.947A>T
ENST00000648189.1:c.993A>T
ENST00000648256.1:c.1147A>T	ENSP00000497356.1:n.1147A>T
ENST00000648314.1:c.*294A>T	ENSP00000496920.1:n.*294A>T
ENST00000648599.1:c.*458A>T	ENSP00000497159.1:n.*458A>T
ENST00000648630.1:c.1054A>T	ENSP00000497887.1:p.Thr352Ser
ENST00000648682.1:c.*15A>T	ENSP00000498185.1:n.*15A>T
ENST00000648882.1:c.*1001A>T	ENSP00000497603.1:n.*1001A>T
ENST00000648890.1:c.1175A>T	ENSP00000497503.1:p.Asp392Val
ENST00000648915.2:c.1175A>T MANE Select	ENSP00000497160.1:p.Asp392Val
ENST00000649545.1:c.596A>T
ENST00000649688.1:c.*468A>T	ENSP00000497097.1:n.*468A>T
ENST00000649814.1:n.1224A>T
ENST00000650270.1:c.1042A>T
ENST00000273783.7:c.1175A>T	ENSP00000273783.3:p.Asp392Val
ENST00000432982.5:c.246-294A>T
ENST00000444495.1:c.1175A>T	ENSP00000409142.1:p.Asp392Val
ENST00000479833.1:n.376A>T
ENST00000481054.5:n.1269A>T
ENST00000491144.5:n.1679A>T
ENST00000492773.5:n.58A>T
NM_003907.2:c.1175A>T	NP_003898.2:p.Asp392Val
XM_011513265.1:c.425A>T	XP_011511567.1:p.Asp142Val
XM_011513266.1:c.338A>T	XP_011511568.1:p.Asp113Val
XR_924208.1:n.2126A>T
NM_003907.3:c.1175A>T MANE Select	NP_003898.2:p.Asp392Val
XM_011513266.3:c.338A>T	XP_011511568.1:p.Asp113Val
XR_001740352.2:n.1538A>T
XR_001740353.2:n.1538A>T
XR_924208.2:n.1538A>T