Canonical Allele Identifier: CA437323472

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855552C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137764C>G , CM000665.2:g.184137764C>G	GRCh38
NC_000003.11:g.183855552C>G , CM000665.1:g.183855552C>G	GRCh37
NC_000003.10:g.185338246C>G	NCBI36
NG_015826.1:g.7743C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.488C>G
ENST00000468748.7:n.448C>G
ENST00000484154.2:n.1086C>G
ENST00000491008.6:n.1213C>G
ENST00000492226.2:n.462C>G
ENST00000492773.6:c.197C>G
ENST00000647636.1:c.465C>G	ENSP00000497505.1:p.Val155=
ENST00000647909.1:c.465C>G	ENSP00000498164.1:p.Val155=
ENST00000648145.1:c.233C>G
ENST00000648189.1:c.215C>G
ENST00000648256.1:c.414C>G	ENSP00000497356.1:p.Val138=
ENST00000648314.1:c.465C>G	ENSP00000496920.1:p.Val155=
ENST00000648599.1:c.465C>G	ENSP00000497159.1:p.Val155=
ENST00000648630.1:c.459C>G	ENSP00000497887.1:p.Val153=
ENST00000648682.1:c.465C>G	ENSP00000498185.1:p.Val155=
ENST00000648882.1:c.*291C>G	ENSP00000497603.1:n.*291C>G
ENST00000648890.1:c.465C>G	ENSP00000497503.1:p.Val155=
ENST00000648915.2:c.465C>G MANE Select	ENSP00000497160.1:p.Val155=
ENST00000649545.1:c.199C>G
ENST00000649688.1:c.465C>G	ENSP00000497097.1:p.Val155=
ENST00000649814.1:n.514C>G
ENST00000650244.1:c.610C>G	ENSP00000497227.1:n.610C>G
ENST00000650270.1:c.332C>G
ENST00000273783.7:c.465C>G	ENSP00000273783.3:p.Val155=
ENST00000432982.5:c.245+1089C>G
ENST00000444495.1:c.465C>G	ENSP00000409142.1:p.Val155=
ENST00000481054.5:n.466C>G
ENST00000491008.5:n.429C>G
ENST00000491144.5:n.813C>G
ENST00000498831.1:n.420C>G
NM_003907.2:c.465C>G	NP_003898.2:p.Val155=
XR_924208.1:n.1416C>G
NM_003907.3:c.465C>G MANE Select	NP_003898.2:p.Val155=
XM_011513266.3:c.-437C>G	XP_011511568.1:n.-437C>G
XR_001740352.2:n.828C>G
XR_001740353.2:n.828C>G
XR_924208.2:n.828C>G