Canonical Allele Identifier: CA88842899

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140602A>G , CM000665.2:g.184140602A>G	GRCh38
NC_000003.11:g.183858390A>G , CM000665.1:g.183858390A>G	GRCh37
NC_000003.10:g.185341084A>G	NCBI36
NG_015826.1:g.10581A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1051A>G
ENST00000468748.7:n.1271A>G
ENST00000484154.2:n.1387-1323A>G
ENST00000491008.6:n.1776A>G
ENST00000492226.2:n.1285A>G
ENST00000492773.6:c.782A>G
ENST00000647636.1:c.1028A>G	ENSP00000497505.1:p.Tyr343Cys
ENST00000647909.1:c.1052A>G	ENSP00000498164.1:p.Tyr351Cys
ENST00000648145.1:c.796A>G
ENST00000648189.1:c.842A>G
ENST00000648256.1:c.1000A>G	ENSP00000497356.1:n.1000A>G
ENST00000648314.1:c.*147A>G	ENSP00000496920.1:n.*147A>G
ENST00000648599.1:c.*311A>G	ENSP00000497159.1:n.*311A>G
ENST00000648630.1:c.1022A>G	ENSP00000497887.1:p.Tyr341Cys
ENST00000648682.1:c.1028A>G	ENSP00000498185.1:p.Tyr343Cys
ENST00000648882.1:c.*854A>G	ENSP00000497603.1:n.*854A>G
ENST00000648890.1:c.1028A>G	ENSP00000497503.1:p.Tyr343Cys
ENST00000648915.2:c.1028A>G MANE Select	ENSP00000497160.1:p.Tyr343Cys
ENST00000649545.1:c.577+445A>G
ENST00000649688.1:c.*311A>G	ENSP00000497097.1:n.*311A>G
ENST00000649814.1:n.1077A>G
ENST00000650270.1:c.895A>G
ENST00000273783.7:c.1028A>G	ENSP00000273783.3:p.Tyr343Cys
ENST00000432982.5:c.246-1635A>G
ENST00000444495.1:c.1028A>G	ENSP00000409142.1:p.Tyr343Cys
ENST00000479833.1:n.344A>G
ENST00000481054.5:n.1122A>G
ENST00000491144.5:n.1532A>G
ENST00000493740.1:n.258A>G
NM_003907.2:c.1028A>G	NP_003898.2:p.Tyr343Cys
XM_011513265.1:c.278A>G	XP_011511567.1:p.Tyr93Cys
XM_011513266.1:c.191A>G	XP_011511568.1:p.Tyr64Cys
XR_924208.1:n.1979A>G
NM_003907.3:c.1028A>G MANE Select	NP_003898.2:p.Tyr343Cys
XM_011513266.3:c.191A>G	XP_011511568.1:p.Tyr64Cys
XR_001740352.2:n.1391A>G
XR_001740353.2:n.1391A>G
XR_924208.2:n.1391A>G