Canonical Allele Identifier: CA355384537

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1326927017
• gnomAD v2: 3-183858206-A-C
• gnomAD v4: 3-184140418-A-C
• MyVariant Identifiers: chr3:g.183858206A>C (hg19) ; chr3:g.184140418A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140418A>C , CM000665.2:g.184140418A>C	GRCh38
NC_000003.11:g.183858206A>C , CM000665.1:g.183858206A>C	GRCh37
NC_000003.10:g.185340900A>C	NCBI36
NG_015826.1:g.10397A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.867A>C
ENST00000468748.7:n.1087A>C
ENST00000484154.2:n.1387-1507A>C
ENST00000491008.6:n.1592A>C
ENST00000492226.2:n.1101A>C
ENST00000492773.6:c.598A>C
ENST00000647636.1:c.844A>C	ENSP00000497505.1:p.Ile282Leu
ENST00000647909.1:c.868A>C	ENSP00000498164.1:p.Ile290Leu
ENST00000648145.1:c.612A>C
ENST00000648189.1:c.658A>C
ENST00000648256.1:c.816A>C	ENSP00000497356.1:n.816A>C
ENST00000648314.1:c.908A>C	ENSP00000496920.1:p.Asp303Ala
ENST00000648599.1:c.*127A>C	ENSP00000497159.1:n.*127A>C
ENST00000648630.1:c.838A>C	ENSP00000497887.1:p.Ile280Leu
ENST00000648682.1:c.844A>C	ENSP00000498185.1:p.Ile282Leu
ENST00000648882.1:c.*670A>C	ENSP00000497603.1:n.*670A>C
ENST00000648890.1:c.844A>C	ENSP00000497503.1:p.Ile282Leu
ENST00000648915.2:c.844A>C MANE Select	ENSP00000497160.1:p.Ile282Leu
ENST00000649545.1:c.577+261A>C
ENST00000649688.1:c.*127A>C	ENSP00000497097.1:n.*127A>C
ENST00000649814.1:n.893A>C
ENST00000650270.1:c.711A>C
ENST00000273783.7:c.844A>C	ENSP00000273783.3:p.Ile282Leu
ENST00000432982.5:c.246-1819A>C
ENST00000444495.1:c.844A>C	ENSP00000409142.1:p.Ile282Leu
ENST00000468748.5:n.557A>C
ENST00000479833.1:n.160A>C
ENST00000481054.5:n.938A>C
ENST00000491144.5:n.1348A>C
ENST00000493740.1:n.74A>C
NM_003907.2:c.844A>C	NP_003898.2:p.Ile282Leu
XM_011513265.1:c.94A>C	XP_011511567.1:p.Ile32Leu
XM_011513266.1:c.7A>C	XP_011511568.1:p.Ile3Leu
XR_924208.1:n.1795A>C
NM_003907.3:c.844A>C MANE Select	NP_003898.2:p.Ile282Leu
XM_011513266.3:c.7A>C	XP_011511568.1:p.Ile3Leu
XR_001740352.2:n.1207A>C
XR_001740353.2:n.1207A>C
XR_924208.2:n.1207A>C