Canonical Allele Identifier: CA2726326

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 1372063
• ClinVar RCV Id: RCV001907916 ; RCV002482583
• dbSNP Id: rs758129111
• ExAC: 3:183853343 T / C
• gnomAD v2: 3-183853343-T-C
• gnomAD v3: 3-184135555-T-C
• gnomAD v4: 3-184135555-T-C
• MyVariant Identifiers: chr3:g.183853343T>C (hg19) ; chr3:g.184135555T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184135555T>C , CM000665.2:g.184135555T>C	GRCh38
NC_000003.11:g.183853343T>C , CM000665.1:g.183853343T>C	GRCh37
NC_000003.10:g.185336037T>C	NCBI36
NG_015826.1:g.5534T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000432569.2:c.170T>C	ENSP00000414775.1:p.Phe57Ser
ENST00000465218.3:n.193T>C
ENST00000468748.7:n.153T>C
ENST00000471832.2:c.170T>C	ENSP00000497786.1:p.Phe57Ser
ENST00000491008.6:n.35T>C
ENST00000492226.2:n.167T>C
ENST00000647636.1:c.170T>C	ENSP00000497505.1:p.Phe57Ser
ENST00000647909.1:c.170T>C	ENSP00000498164.1:p.Phe57Ser
ENST00000648256.1:c.119T>C	ENSP00000497356.1:p.Phe40Ser
ENST00000648314.1:c.170T>C	ENSP00000496920.1:p.Phe57Ser
ENST00000648599.1:c.170T>C	ENSP00000497159.1:p.Phe57Ser
ENST00000648630.1:c.164T>C	ENSP00000497887.1:p.Phe55Ser
ENST00000648682.1:c.170T>C	ENSP00000498185.1:p.Phe57Ser
ENST00000648882.1:c.170T>C	ENSP00000497603.1:p.Phe57Ser
ENST00000648890.1:c.170T>C	ENSP00000497503.1:p.Phe57Ser
ENST00000648915.2:c.170T>C MANE Select	ENSP00000497160.1:p.Phe57Ser
ENST00000649688.1:c.170T>C	ENSP00000497097.1:p.Phe57Ser
ENST00000649814.1:n.219T>C
ENST00000650244.1:c.62T>C	ENSP00000497227.1:p.Phe21Ser
ENST00000650270.1:c.37T>C
ENST00000273783.7:c.170T>C	ENSP00000273783.3:p.Phe57Ser
ENST00000432569.1:c.170T>C	ENSP00000414775.1:p.Phe57Ser
ENST00000432982.5:c.156T>C
ENST00000444495.1:c.170T>C	ENSP00000409142.1:p.Phe57Ser
ENST00000481054.5:n.171T>C
ENST00000491144.5:n.518T>C
NM_003907.2:c.170T>C	NP_003898.2:p.Phe57Ser
XR_924208.1:n.1121T>C
NM_003907.3:c.170T>C MANE Select	NP_003898.2:p.Phe57Ser
XM_011513266.3:c.-732T>C	XP_011511568.1:n.-732T>C
XR_001740352.2:n.533T>C
XR_001740353.2:n.533T>C
XR_924208.2:n.533T>C