Canonical Allele Identifier: CA437323604

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855803C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138015C>A , CM000665.2:g.184138015C>A	GRCh38
NC_000003.11:g.183855803C>A , CM000665.1:g.183855803C>A	GRCh37
NC_000003.10:g.185338497C>A	NCBI36
NG_015826.1:g.7994C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.647C>A
ENST00000468748.7:n.607C>A
ENST00000484154.2:n.1245C>A
ENST00000491008.6:n.1372C>A
ENST00000492226.2:n.621C>A
ENST00000492773.6:c.356C>A
ENST00000647636.1:c.624C>A	ENSP00000497505.1:p.Thr208=
ENST00000647909.1:c.648C>A	ENSP00000498164.1:p.Thr216=
ENST00000648145.1:c.392C>A
ENST00000648189.1:c.374C>A
ENST00000648256.1:c.573C>A	ENSP00000497356.1:p.Thr191=
ENST00000648314.1:c.624C>A	ENSP00000496920.1:p.Thr208=
ENST00000648599.1:c.624C>A	ENSP00000497159.1:p.Thr208=
ENST00000648630.1:c.618C>A	ENSP00000497887.1:p.Thr206=
ENST00000648682.1:c.624C>A	ENSP00000498185.1:p.Thr208=
ENST00000648882.1:c.*450C>A	ENSP00000497603.1:n.*450C>A
ENST00000648890.1:c.624C>A	ENSP00000497503.1:p.Thr208=
ENST00000648915.2:c.624C>A MANE Select	ENSP00000497160.1:p.Thr208=
ENST00000649545.1:c.358C>A
ENST00000649688.1:c.624C>A	ENSP00000497097.1:p.Thr208=
ENST00000649814.1:n.673C>A
ENST00000650270.1:c.491C>A
ENST00000273783.7:c.624C>A	ENSP00000273783.3:p.Thr208=
ENST00000432982.5:c.245+1340C>A
ENST00000444495.1:c.624C>A	ENSP00000409142.1:p.Thr208=
ENST00000468748.5:n.77C>A
ENST00000481054.5:n.625C>A
ENST00000491008.5:n.588C>A
ENST00000491144.5:n.1064C>A
ENST00000498831.1:n.579C>A
NM_003907.2:c.624C>A	NP_003898.2:p.Thr208=
XR_924208.1:n.1575C>A
NM_003907.3:c.624C>A MANE Select	NP_003898.2:p.Thr208=
XM_011513266.3:c.-278C>A	XP_011511568.1:n.-278C>A
XR_001740352.2:n.987C>A
XR_001740353.2:n.987C>A
XR_924208.2:n.987C>A