Canonical Allele Identifier: CA355383439

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184140115-A-T
• MyVariant Identifiers: chr3:g.183857903A>T (hg19) ; chr3:g.184140115A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140115A>T , CM000665.2:g.184140115A>T	GRCh38
NC_000003.11:g.183857903A>T , CM000665.1:g.183857903A>T	GRCh37
NC_000003.10:g.185340597A>T	NCBI36
NG_015826.1:g.10094A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.824A>T
ENST00000468748.7:n.784A>T
ENST00000484154.2:n.1387-1810A>T
ENST00000491008.6:n.1549A>T
ENST00000492226.2:n.798A>T
ENST00000492773.6:c.555A>T
ENST00000647636.1:c.801A>T	ENSP00000497505.1:p.Gln267His
ENST00000647909.1:c.825A>T	ENSP00000498164.1:p.Gln275His
ENST00000648145.1:c.569A>T
ENST00000648189.1:c.551A>T
ENST00000648256.1:c.773A>T	ENSP00000497356.1:p.Lys258Ile
ENST00000648314.1:c.801A>T	ENSP00000496920.1:p.Gln267His
ENST00000648599.1:c.*84A>T	ENSP00000497159.1:n.*84A>T
ENST00000648630.1:c.795A>T	ENSP00000497887.1:p.Gln265His
ENST00000648682.1:c.801A>T	ENSP00000498185.1:p.Gln267His
ENST00000648882.1:c.*627A>T	ENSP00000497603.1:n.*627A>T
ENST00000648890.1:c.801A>T	ENSP00000497503.1:p.Gln267His
ENST00000648915.2:c.801A>T MANE Select	ENSP00000497160.1:p.Gln267His
ENST00000649545.1:c.535A>T
ENST00000649688.1:c.*84A>T	ENSP00000497097.1:n.*84A>T
ENST00000649814.1:n.850A>T
ENST00000650270.1:c.668A>T
ENST00000273783.7:c.801A>T	ENSP00000273783.3:p.Gln267His
ENST00000432982.5:c.246-2122A>T
ENST00000444495.1:c.801A>T	ENSP00000409142.1:p.Gln267His
ENST00000468748.5:n.254A>T
ENST00000479833.1:n.117A>T
ENST00000481054.5:n.895A>T
ENST00000491008.5:n.765A>T
ENST00000491144.5:n.1241A>T
NM_003907.2:c.801A>T	NP_003898.2:p.Gln267His
XM_011513265.1:c.51A>T	XP_011511567.1:p.Gln17His
XR_924208.1:n.1752A>T
NM_003907.3:c.801A>T MANE Select	NP_003898.2:p.Gln267His
XM_011513266.3:c.-101A>T	XP_011511568.1:n.-101A>T
XR_001740352.2:n.1164A>T
XR_001740353.2:n.1164A>T
XR_924208.2:n.1164A>T