Canonical Allele Identifier: CA437323944

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183858355C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140567C>A , CM000665.2:g.184140567C>A	GRCh38
NC_000003.11:g.183858355C>A , CM000665.1:g.183858355C>A	GRCh37
NC_000003.10:g.185341049C>A	NCBI36
NG_015826.1:g.10546C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1016C>A
ENST00000468748.7:n.1236C>A
ENST00000484154.2:n.1387-1358C>A
ENST00000491008.6:n.1741C>A
ENST00000492226.2:n.1250C>A
ENST00000492773.6:c.747C>A
ENST00000647636.1:c.993C>A	ENSP00000497505.1:p.Thr331=
ENST00000647909.1:c.1017C>A	ENSP00000498164.1:p.Thr339=
ENST00000648145.1:c.761C>A
ENST00000648189.1:c.807C>A
ENST00000648256.1:c.965C>A	ENSP00000497356.1:n.965C>A
ENST00000648314.1:c.*112C>A	ENSP00000496920.1:n.*112C>A
ENST00000648599.1:c.*276C>A	ENSP00000497159.1:n.*276C>A
ENST00000648630.1:c.987C>A	ENSP00000497887.1:p.Thr329=
ENST00000648682.1:c.993C>A	ENSP00000498185.1:p.Thr331=
ENST00000648882.1:c.*819C>A	ENSP00000497603.1:n.*819C>A
ENST00000648890.1:c.993C>A	ENSP00000497503.1:p.Thr331=
ENST00000648915.2:c.993C>A MANE Select	ENSP00000497160.1:p.Thr331=
ENST00000649545.1:c.577+410C>A
ENST00000649688.1:c.*276C>A	ENSP00000497097.1:n.*276C>A
ENST00000649814.1:n.1042C>A
ENST00000650270.1:c.860C>A
ENST00000273783.7:c.993C>A	ENSP00000273783.3:p.Thr331=
ENST00000432982.5:c.246-1670C>A
ENST00000444495.1:c.993C>A	ENSP00000409142.1:p.Thr331=
ENST00000479833.1:n.309C>A
ENST00000481054.5:n.1087C>A
ENST00000491144.5:n.1497C>A
ENST00000493740.1:n.223C>A
NM_003907.2:c.993C>A	NP_003898.2:p.Thr331=
XM_011513265.1:c.243C>A	XP_011511567.1:p.Thr81=
XM_011513266.1:c.156C>A	XP_011511568.1:p.Thr52=
XR_924208.1:n.1944C>A
NM_003907.3:c.993C>A MANE Select	NP_003898.2:p.Thr331=
XM_011513266.3:c.156C>A	XP_011511568.1:p.Thr52=
XR_001740352.2:n.1356C>A
XR_001740353.2:n.1356C>A
XR_924208.2:n.1356C>A