Canonical Allele Identifier: CA437323742

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183858208C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140420C>T , CM000665.2:g.184140420C>T	GRCh38
NC_000003.11:g.183858208C>T , CM000665.1:g.183858208C>T	GRCh37
NC_000003.10:g.185340902C>T	NCBI36
NG_015826.1:g.10399C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.869C>T
ENST00000468748.7:n.1089C>T
ENST00000484154.2:n.1387-1505C>T
ENST00000491008.6:n.1594C>T
ENST00000492226.2:n.1103C>T
ENST00000492773.6:c.600C>T
ENST00000647636.1:c.846C>T	ENSP00000497505.1:p.Ile282=
ENST00000647909.1:c.870C>T	ENSP00000498164.1:p.Ile290=
ENST00000648145.1:c.614C>T
ENST00000648189.1:c.660C>T
ENST00000648256.1:c.818C>T	ENSP00000497356.1:n.818C>T
ENST00000648314.1:c.910C>T	ENSP00000496920.1:p.Pro304Ser
ENST00000648599.1:c.*129C>T	ENSP00000497159.1:n.*129C>T
ENST00000648630.1:c.840C>T	ENSP00000497887.1:p.Ile280=
ENST00000648682.1:c.846C>T	ENSP00000498185.1:p.Ile282=
ENST00000648882.1:c.*672C>T	ENSP00000497603.1:n.*672C>T
ENST00000648890.1:c.846C>T	ENSP00000497503.1:p.Ile282=
ENST00000648915.2:c.846C>T MANE Select	ENSP00000497160.1:p.Ile282=
ENST00000649545.1:c.577+263C>T
ENST00000649688.1:c.*129C>T	ENSP00000497097.1:n.*129C>T
ENST00000649814.1:n.895C>T
ENST00000650270.1:c.713C>T
ENST00000273783.7:c.846C>T	ENSP00000273783.3:p.Ile282=
ENST00000432982.5:c.246-1817C>T
ENST00000444495.1:c.846C>T	ENSP00000409142.1:p.Ile282=
ENST00000468748.5:n.559C>T
ENST00000479833.1:n.162C>T
ENST00000481054.5:n.940C>T
ENST00000491144.5:n.1350C>T
ENST00000493740.1:n.76C>T
NM_003907.2:c.846C>T	NP_003898.2:p.Ile282=
XM_011513265.1:c.96C>T	XP_011511567.1:p.Ile32=
XM_011513266.1:c.9C>T	XP_011511568.1:p.Ile3=
XR_924208.1:n.1797C>T
NM_003907.3:c.846C>T MANE Select	NP_003898.2:p.Ile282=
XM_011513266.3:c.9C>T	XP_011511568.1:p.Ile3=
XR_001740352.2:n.1209C>T
XR_001740353.2:n.1209C>T
XR_924208.2:n.1209C>T