Canonical Allele Identifier: CA437323772

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183858238A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140450A>T , CM000665.2:g.184140450A>T	GRCh38
NC_000003.11:g.183858238A>T , CM000665.1:g.183858238A>T	GRCh37
NC_000003.10:g.185340932A>T	NCBI36
NG_015826.1:g.10429A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.899A>T
ENST00000468748.7:n.1119A>T
ENST00000484154.2:n.1387-1475A>T
ENST00000491008.6:n.1624A>T
ENST00000492226.2:n.1133A>T
ENST00000492773.6:c.630A>T
ENST00000647636.1:c.876A>T	ENSP00000497505.1:p.Thr292=
ENST00000647909.1:c.900A>T	ENSP00000498164.1:p.Thr300=
ENST00000648145.1:c.644A>T
ENST00000648189.1:c.690A>T
ENST00000648256.1:c.848A>T	ENSP00000497356.1:n.848A>T
ENST00000648314.1:c.940A>T	ENSP00000496920.1:p.Ser314Cys
ENST00000648599.1:c.*159A>T	ENSP00000497159.1:n.*159A>T
ENST00000648630.1:c.870A>T	ENSP00000497887.1:p.Thr290=
ENST00000648682.1:c.876A>T	ENSP00000498185.1:p.Thr292=
ENST00000648882.1:c.*702A>T	ENSP00000497603.1:n.*702A>T
ENST00000648890.1:c.876A>T	ENSP00000497503.1:p.Thr292=
ENST00000648915.2:c.876A>T MANE Select	ENSP00000497160.1:p.Thr292=
ENST00000649545.1:c.577+293A>T
ENST00000649688.1:c.*159A>T	ENSP00000497097.1:n.*159A>T
ENST00000649814.1:n.925A>T
ENST00000650270.1:c.743A>T
ENST00000273783.7:c.876A>T	ENSP00000273783.3:p.Thr292=
ENST00000432982.5:c.246-1787A>T
ENST00000444495.1:c.876A>T	ENSP00000409142.1:p.Thr292=
ENST00000468748.5:n.589A>T
ENST00000479833.1:n.192A>T
ENST00000481054.5:n.970A>T
ENST00000491144.5:n.1380A>T
ENST00000493740.1:n.106A>T
NM_003907.2:c.876A>T	NP_003898.2:p.Thr292=
XM_011513265.1:c.126A>T	XP_011511567.1:p.Thr42=
XM_011513266.1:c.39A>T	XP_011511568.1:p.Thr13=
XR_924208.1:n.1827A>T
NM_003907.3:c.876A>T MANE Select	NP_003898.2:p.Thr292=
XM_011513266.3:c.39A>T	XP_011511568.1:p.Thr13=
XR_001740352.2:n.1239A>T
XR_001740353.2:n.1239A>T
XR_924208.2:n.1239A>T