Canonical Allele Identifier: CA355382267

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855753C>T (hg19) ; chr3:g.184137965C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137965C>T , CM000665.2:g.184137965C>T	GRCh38
NC_000003.11:g.183855753C>T , CM000665.1:g.183855753C>T	GRCh37
NC_000003.10:g.185338447C>T	NCBI36
NG_015826.1:g.7944C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.597C>T
ENST00000468748.7:n.557C>T
ENST00000484154.2:n.1195C>T
ENST00000491008.6:n.1322C>T
ENST00000492226.2:n.571C>T
ENST00000492773.6:c.306C>T
ENST00000647636.1:c.574C>T	ENSP00000497505.1:p.His192Tyr
ENST00000647909.1:c.598C>T	ENSP00000498164.1:p.His200Tyr
ENST00000648145.1:c.342C>T
ENST00000648189.1:c.324C>T
ENST00000648256.1:c.523C>T	ENSP00000497356.1:p.His175Tyr
ENST00000648314.1:c.574C>T	ENSP00000496920.1:p.His192Tyr
ENST00000648599.1:c.574C>T	ENSP00000497159.1:p.His192Tyr
ENST00000648630.1:c.568C>T	ENSP00000497887.1:p.His190Tyr
ENST00000648682.1:c.574C>T	ENSP00000498185.1:p.His192Tyr
ENST00000648882.1:c.*400C>T	ENSP00000497603.1:n.*400C>T
ENST00000648890.1:c.574C>T	ENSP00000497503.1:p.His192Tyr
ENST00000648915.2:c.574C>T MANE Select	ENSP00000497160.1:p.His192Tyr
ENST00000649545.1:c.308C>T
ENST00000649688.1:c.574C>T	ENSP00000497097.1:p.His192Tyr
ENST00000649814.1:n.623C>T
ENST00000650270.1:c.441C>T
ENST00000273783.7:c.574C>T	ENSP00000273783.3:p.His192Tyr
ENST00000432982.5:c.245+1290C>T
ENST00000444495.1:c.574C>T	ENSP00000409142.1:p.His192Tyr
ENST00000468748.5:n.27C>T
ENST00000481054.5:n.575C>T
ENST00000491008.5:n.538C>T
ENST00000491144.5:n.1014C>T
ENST00000498831.1:n.529C>T
NM_003907.2:c.574C>T	NP_003898.2:p.His192Tyr
XR_924208.1:n.1525C>T
NM_003907.3:c.574C>T MANE Select	NP_003898.2:p.His192Tyr
XM_011513266.3:c.-328C>T	XP_011511568.1:n.-328C>T
XR_001740352.2:n.937C>T
XR_001740353.2:n.937C>T
XR_924208.2:n.937C>T