Canonical Allele Identifier: CA355383400

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183857895G>T (hg19) ; chr3:g.184140107G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140107G>T , CM000665.2:g.184140107G>T	GRCh38
NC_000003.11:g.183857895G>T , CM000665.1:g.183857895G>T	GRCh37
NC_000003.10:g.185340589G>T	NCBI36
NG_015826.1:g.10086G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.816G>T
ENST00000468748.7:n.776G>T
ENST00000484154.2:n.1387-1818G>T
ENST00000491008.6:n.1541G>T
ENST00000492226.2:n.790G>T
ENST00000492773.6:c.547G>T
ENST00000647636.1:c.793G>T	ENSP00000497505.1:p.Asp265Tyr
ENST00000647909.1:c.817G>T	ENSP00000498164.1:p.Asp273Tyr
ENST00000648145.1:c.561G>T
ENST00000648189.1:c.543G>T
ENST00000648256.1:c.765G>T	ENSP00000497356.1:p.Leu255Phe
ENST00000648314.1:c.793G>T	ENSP00000496920.1:p.Asp265Tyr
ENST00000648599.1:c.*76G>T	ENSP00000497159.1:n.*76G>T
ENST00000648630.1:c.787G>T	ENSP00000497887.1:p.Asp263Tyr
ENST00000648682.1:c.793G>T	ENSP00000498185.1:p.Asp265Tyr
ENST00000648882.1:c.*619G>T	ENSP00000497603.1:n.*619G>T
ENST00000648890.1:c.793G>T	ENSP00000497503.1:p.Asp265Tyr
ENST00000648915.2:c.793G>T MANE Select	ENSP00000497160.1:p.Asp265Tyr
ENST00000649545.1:c.527G>T
ENST00000649688.1:c.*76G>T	ENSP00000497097.1:n.*76G>T
ENST00000649814.1:n.842G>T
ENST00000650270.1:c.660G>T
ENST00000273783.7:c.793G>T	ENSP00000273783.3:p.Asp265Tyr
ENST00000432982.5:c.246-2130G>T
ENST00000444495.1:c.793G>T	ENSP00000409142.1:p.Asp265Tyr
ENST00000468748.5:n.246G>T
ENST00000479833.1:n.109G>T
ENST00000481054.5:n.887G>T
ENST00000491008.5:n.757G>T
ENST00000491144.5:n.1233G>T
NM_003907.2:c.793G>T	NP_003898.2:p.Asp265Tyr
XM_011513265.1:c.43G>T	XP_011511567.1:p.Asp15Tyr
XR_924208.1:n.1744G>T
NM_003907.3:c.793G>T MANE Select	NP_003898.2:p.Asp265Tyr
XM_011513266.3:c.-109G>T	XP_011511568.1:n.-109G>T
XR_001740352.2:n.1156G>T
XR_001740353.2:n.1156G>T
XR_924208.2:n.1156G>T