Canonical Allele Identifier: CA355381936

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855516G>C (hg19) ; chr3:g.184137728G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137728G>C , CM000665.2:g.184137728G>C	GRCh38
NC_000003.11:g.183855516G>C , CM000665.1:g.183855516G>C	GRCh37
NC_000003.10:g.185338210G>C	NCBI36
NG_015826.1:g.7707G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.452G>C
ENST00000468748.7:n.412G>C
ENST00000484154.2:n.1050G>C
ENST00000491008.6:n.1177G>C
ENST00000492226.2:n.426G>C
ENST00000492773.6:c.161G>C
ENST00000647636.1:c.429G>C	ENSP00000497505.1:p.Leu143Phe
ENST00000647909.1:c.429G>C	ENSP00000498164.1:p.Leu143Phe
ENST00000648145.1:c.197G>C
ENST00000648189.1:c.179G>C
ENST00000648256.1:c.378G>C	ENSP00000497356.1:p.Leu126Phe
ENST00000648314.1:c.429G>C	ENSP00000496920.1:p.Leu143Phe
ENST00000648599.1:c.429G>C	ENSP00000497159.1:p.Leu143Phe
ENST00000648630.1:c.423G>C	ENSP00000497887.1:p.Leu141Phe
ENST00000648682.1:c.429G>C	ENSP00000498185.1:p.Leu143Phe
ENST00000648882.1:c.*255G>C	ENSP00000497603.1:n.*255G>C
ENST00000648890.1:c.429G>C	ENSP00000497503.1:p.Leu143Phe
ENST00000648915.2:c.429G>C MANE Select	ENSP00000497160.1:p.Leu143Phe
ENST00000649545.1:c.163G>C
ENST00000649688.1:c.429G>C	ENSP00000497097.1:p.Leu143Phe
ENST00000649814.1:n.478G>C
ENST00000650244.1:c.574G>C	ENSP00000497227.1:n.574G>C
ENST00000650270.1:c.296G>C
ENST00000273783.7:c.429G>C	ENSP00000273783.3:p.Leu143Phe
ENST00000432982.5:c.245+1053G>C
ENST00000444495.1:c.429G>C	ENSP00000409142.1:p.Leu143Phe
ENST00000481054.5:n.430G>C
ENST00000491008.5:n.393G>C
ENST00000491144.5:n.777G>C
ENST00000498831.1:n.384G>C
NM_003907.2:c.429G>C	NP_003898.2:p.Leu143Phe
XR_924208.1:n.1380G>C
NM_003907.3:c.429G>C MANE Select	NP_003898.2:p.Leu143Phe
XM_011513266.3:c.-473G>C	XP_011511568.1:n.-473G>C
XR_001740352.2:n.792G>C
XR_001740353.2:n.792G>C
XR_924208.2:n.792G>C