Canonical Allele Identifier: CA437323888

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183858316C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140528C>T , CM000665.2:g.184140528C>T	GRCh38
NC_000003.11:g.183858316C>T , CM000665.1:g.183858316C>T	GRCh37
NC_000003.10:g.185341010C>T	NCBI36
NG_015826.1:g.10507C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.977C>T
ENST00000468748.7:n.1197C>T
ENST00000484154.2:n.1387-1397C>T
ENST00000491008.6:n.1702C>T
ENST00000492226.2:n.1211C>T
ENST00000492773.6:c.708C>T
ENST00000647636.1:c.954C>T	ENSP00000497505.1:p.Val318=
ENST00000647909.1:c.978C>T	ENSP00000498164.1:p.Val326=
ENST00000648145.1:c.722C>T
ENST00000648189.1:c.768C>T
ENST00000648256.1:c.926C>T	ENSP00000497356.1:n.926C>T
ENST00000648314.1:c.*73C>T	ENSP00000496920.1:n.*73C>T
ENST00000648599.1:c.*237C>T	ENSP00000497159.1:n.*237C>T
ENST00000648630.1:c.948C>T	ENSP00000497887.1:p.Val316=
ENST00000648682.1:c.954C>T	ENSP00000498185.1:p.Val318=
ENST00000648882.1:c.*780C>T	ENSP00000497603.1:n.*780C>T
ENST00000648890.1:c.954C>T	ENSP00000497503.1:p.Val318=
ENST00000648915.2:c.954C>T MANE Select	ENSP00000497160.1:p.Val318=
ENST00000649545.1:c.577+371C>T
ENST00000649688.1:c.*237C>T	ENSP00000497097.1:n.*237C>T
ENST00000649814.1:n.1003C>T
ENST00000650270.1:c.821C>T
ENST00000273783.7:c.954C>T	ENSP00000273783.3:p.Val318=
ENST00000432982.5:c.246-1709C>T
ENST00000444495.1:c.954C>T	ENSP00000409142.1:p.Val318=
ENST00000468748.5:n.667C>T
ENST00000479833.1:n.270C>T
ENST00000481054.5:n.1048C>T
ENST00000491144.5:n.1458C>T
ENST00000493740.1:n.184C>T
NM_003907.2:c.954C>T	NP_003898.2:p.Val318=
XM_011513265.1:c.204C>T	XP_011511567.1:p.Val68=
XM_011513266.1:c.117C>T	XP_011511568.1:p.Val39=
XR_924208.1:n.1905C>T
NM_003907.3:c.954C>T MANE Select	NP_003898.2:p.Val318=
XM_011513266.3:c.117C>T	XP_011511568.1:p.Val39=
XR_001740352.2:n.1317C>T
XR_001740353.2:n.1317C>T
XR_924208.2:n.1317C>T