Canonical Allele Identifier: CA437146482

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183854459C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184136671C>T , CM000665.2:g.184136671C>T	GRCh38
NC_000003.11:g.183854459C>T , CM000665.1:g.183854459C>T	GRCh37
NC_000003.10:g.185337153C>T	NCBI36
NG_015826.1:g.6650C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432569.2:c.255C>T	ENSP00000414775.1:p.Ala85=
ENST00000465218.3:n.278C>T
ENST00000468748.7:n.238C>T
ENST00000471832.2:c.*249C>T	ENSP00000497786.1:n.*249C>T
ENST00000491008.6:n.120C>T
ENST00000492226.2:n.252C>T
ENST00000647636.1:c.255C>T	ENSP00000497505.1:p.Ala85=
ENST00000647909.1:c.255C>T	ENSP00000498164.1:p.Ala85=
ENST00000648145.1:c.23C>T
ENST00000648189.1:c.5C>T
ENST00000648256.1:c.204C>T	ENSP00000497356.1:p.Ala68=
ENST00000648314.1:c.255C>T	ENSP00000496920.1:p.Ala85=
ENST00000648599.1:c.255C>T	ENSP00000497159.1:p.Ala85=
ENST00000648630.1:c.249C>T	ENSP00000497887.1:p.Ala83=
ENST00000648682.1:c.255C>T	ENSP00000498185.1:p.Ala85=
ENST00000648882.1:c.*81C>T	ENSP00000497603.1:n.*81C>T
ENST00000648890.1:c.255C>T	ENSP00000497503.1:p.Ala85=
ENST00000648915.2:c.255C>T MANE Select	ENSP00000497160.1:p.Ala85=
ENST00000649688.1:c.255C>T	ENSP00000497097.1:p.Ala85=
ENST00000649814.1:n.304C>T
ENST00000650244.1:c.400C>T	ENSP00000497227.1:n.400C>T
ENST00000650270.1:c.122C>T
ENST00000273783.7:c.255C>T	ENSP00000273783.3:p.Ala85=
ENST00000432569.1:c.255C>T	ENSP00000414775.1:p.Ala85=
ENST00000432982.5:c.241C>T
ENST00000444495.1:c.255C>T	ENSP00000409142.1:p.Ala85=
ENST00000471832.1:n.186C>T
ENST00000481054.5:n.256C>T
ENST00000491144.5:n.603C>T
ENST00000498831.1:n.111C>T
NM_003907.2:c.255C>T	NP_003898.2:p.Ala85=
XR_924208.1:n.1206C>T
NM_003907.3:c.255C>T MANE Select	NP_003898.2:p.Ala85=
XM_011513266.3:c.-647C>T	XP_011511568.1:n.-647C>T
XR_001740352.2:n.618C>T
XR_001740353.2:n.618C>T
XR_924208.2:n.618C>T