Canonical Allele Identifier: CA355385828

Gene: EIF2B5

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1051A>C
ENST00000468748.7:n.1271A>C
ENST00000484154.2:n.1387-1323A>C
ENST00000491008.6:n.1776A>C
ENST00000492226.2:n.1285A>C
ENST00000492773.6:c.782A>C
ENST00000647636.1:c.1028A>C	ENSP00000497505.1:p.Tyr343Ser
ENST00000647909.1:c.1052A>C	ENSP00000498164.1:p.Tyr351Ser
ENST00000648145.1:c.796A>C
ENST00000648189.1:c.842A>C
ENST00000648256.1:c.1000A>C	ENSP00000497356.1:n.1000A>C
ENST00000648314.1:c.*147A>C	ENSP00000496920.1:n.*147A>C
ENST00000648599.1:c.*311A>C	ENSP00000497159.1:n.*311A>C
ENST00000648630.1:c.1022A>C	ENSP00000497887.1:p.Tyr341Ser
ENST00000648682.1:c.1028A>C	ENSP00000498185.1:p.Tyr343Ser
ENST00000648882.1:c.*854A>C	ENSP00000497603.1:n.*854A>C
ENST00000648890.1:c.1028A>C	ENSP00000497503.1:p.Tyr343Ser
ENST00000648915.2:c.1028A>C MANE Select	ENSP00000497160.1:p.Tyr343Ser
ENST00000649545.1:c.577+445A>C
ENST00000649688.1:c.*311A>C	ENSP00000497097.1:n.*311A>C
ENST00000649814.1:n.1077A>C
ENST00000650270.1:c.895A>C
ENST00000273783.7:c.1028A>C	ENSP00000273783.3:p.Tyr343Ser
ENST00000432982.5:c.246-1635A>C
ENST00000444495.1:c.1028A>C	ENSP00000409142.1:p.Tyr343Ser
ENST00000479833.1:n.344A>C
ENST00000481054.5:n.1122A>C
ENST00000491144.5:n.1532A>C
ENST00000493740.1:n.258A>C
NM_003907.2:c.1028A>C	NP_003898.2:p.Tyr343Ser
XM_011513265.1:c.278A>C	XP_011511567.1:p.Tyr93Ser
XM_011513266.1:c.191A>C	XP_011511568.1:p.Tyr64Ser
XR_924208.1:n.1979A>C
NM_003907.3:c.1028A>C MANE Select	NP_003898.2:p.Tyr343Ser
XM_011513266.3:c.191A>C	XP_011511568.1:p.Tyr64Ser
XR_001740352.2:n.1391A>C
XR_001740353.2:n.1391A>C
XR_924208.2:n.1391A>C