Canonical Allele Identifier: CA355385026

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183858278T>C (hg19) ; chr3:g.184140490T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140490T>C , CM000665.2:g.184140490T>C	GRCh38
NC_000003.11:g.183858278T>C , CM000665.1:g.183858278T>C	GRCh37
NC_000003.10:g.185340972T>C	NCBI36
NG_015826.1:g.10469T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.939T>C
ENST00000468748.7:n.1159T>C
ENST00000484154.2:n.1387-1435T>C
ENST00000491008.6:n.1664T>C
ENST00000492226.2:n.1173T>C
ENST00000492773.6:c.670T>C
ENST00000647636.1:c.916T>C	ENSP00000497505.1:p.Tyr306His
ENST00000647909.1:c.940T>C	ENSP00000498164.1:p.Tyr314His
ENST00000648145.1:c.684T>C
ENST00000648189.1:c.730T>C
ENST00000648256.1:c.888T>C	ENSP00000497356.1:n.888T>C
ENST00000648314.1:c.*35T>C	ENSP00000496920.1:n.*35T>C
ENST00000648599.1:c.*199T>C	ENSP00000497159.1:n.*199T>C
ENST00000648630.1:c.910T>C	ENSP00000497887.1:p.Tyr304His
ENST00000648682.1:c.916T>C	ENSP00000498185.1:p.Tyr306His
ENST00000648882.1:c.*742T>C	ENSP00000497603.1:n.*742T>C
ENST00000648890.1:c.916T>C	ENSP00000497503.1:p.Tyr306His
ENST00000648915.2:c.916T>C MANE Select	ENSP00000497160.1:p.Tyr306His
ENST00000649545.1:c.577+333T>C
ENST00000649688.1:c.*199T>C	ENSP00000497097.1:n.*199T>C
ENST00000649814.1:n.965T>C
ENST00000650270.1:c.783T>C
ENST00000273783.7:c.916T>C	ENSP00000273783.3:p.Tyr306His
ENST00000432982.5:c.246-1747T>C
ENST00000444495.1:c.916T>C	ENSP00000409142.1:p.Tyr306His
ENST00000468748.5:n.629T>C
ENST00000479833.1:n.232T>C
ENST00000481054.5:n.1010T>C
ENST00000491144.5:n.1420T>C
ENST00000493740.1:n.146T>C
NM_003907.2:c.916T>C	NP_003898.2:p.Tyr306His
XM_011513265.1:c.166T>C	XP_011511567.1:p.Tyr56His
XM_011513266.1:c.79T>C	XP_011511568.1:p.Tyr27His
XR_924208.1:n.1867T>C
NM_003907.3:c.916T>C MANE Select	NP_003898.2:p.Tyr306His
XM_011513266.3:c.79T>C	XP_011511568.1:p.Tyr27His
XR_001740352.2:n.1279T>C
XR_001740353.2:n.1279T>C
XR_924208.2:n.1279T>C