Canonical Allele Identifier: CA355381541

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183854452T>C (hg19) ; chr3:g.184136664T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184136664T>C , CM000665.2:g.184136664T>C	GRCh38
NC_000003.11:g.183854452T>C , CM000665.1:g.183854452T>C	GRCh37
NC_000003.10:g.185337146T>C	NCBI36
NG_015826.1:g.6643T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000432569.2:c.248T>C	ENSP00000414775.1:p.Leu83Pro
ENST00000465218.3:n.271T>C
ENST00000468748.7:n.231T>C
ENST00000471832.2:c.*242T>C	ENSP00000497786.1:n.*242T>C
ENST00000491008.6:n.113T>C
ENST00000492226.2:n.245T>C
ENST00000647636.1:c.248T>C	ENSP00000497505.1:p.Leu83Pro
ENST00000647909.1:c.248T>C	ENSP00000498164.1:p.Leu83Pro
ENST00000648145.1:c.16T>C
ENST00000648256.1:c.197T>C	ENSP00000497356.1:p.Leu66Pro
ENST00000648314.1:c.248T>C	ENSP00000496920.1:p.Leu83Pro
ENST00000648599.1:c.248T>C	ENSP00000497159.1:p.Leu83Pro
ENST00000648630.1:c.242T>C	ENSP00000497887.1:p.Leu81Pro
ENST00000648682.1:c.248T>C	ENSP00000498185.1:p.Leu83Pro
ENST00000648882.1:c.*74T>C	ENSP00000497603.1:n.*74T>C
ENST00000648890.1:c.248T>C	ENSP00000497503.1:p.Leu83Pro
ENST00000648915.2:c.248T>C MANE Select	ENSP00000497160.1:p.Leu83Pro
ENST00000649688.1:c.248T>C	ENSP00000497097.1:p.Leu83Pro
ENST00000649814.1:n.297T>C
ENST00000650244.1:c.393T>C	ENSP00000497227.1:n.393T>C
ENST00000650270.1:c.115T>C
ENST00000273783.7:c.248T>C	ENSP00000273783.3:p.Leu83Pro
ENST00000432569.1:c.248T>C	ENSP00000414775.1:p.Leu83Pro
ENST00000432982.5:c.234T>C
ENST00000444495.1:c.248T>C	ENSP00000409142.1:p.Leu83Pro
ENST00000471832.1:n.179T>C
ENST00000481054.5:n.249T>C
ENST00000491144.5:n.596T>C
ENST00000498831.1:n.104T>C
NM_003907.2:c.248T>C	NP_003898.2:p.Leu83Pro
XR_924208.1:n.1199T>C
NM_003907.3:c.248T>C MANE Select	NP_003898.2:p.Leu83Pro
XM_011513266.3:c.-654T>C	XP_011511568.1:n.-654T>C
XR_001740352.2:n.611T>C
XR_001740353.2:n.611T>C
XR_924208.2:n.611T>C