Canonical Allele Identifier: CA355386687

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183859734A>G (hg19) ; chr3:g.184141946A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184141946A>G , CM000665.2:g.184141946A>G	GRCh38
NC_000003.11:g.183859734A>G , CM000665.1:g.183859734A>G	GRCh37
NC_000003.10:g.185342428A>G	NCBI36
NG_015826.1:g.11925A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1201A>G
ENST00000468748.7:n.1421A>G
ENST00000484154.2:n.1408A>G
ENST00000491008.6:n.1926A>G
ENST00000492226.2:n.1445A>G
ENST00000492773.6:c.932A>G
ENST00000647636.1:c.*27A>G	ENSP00000497505.1:n.*27A>G
ENST00000647909.1:c.1202A>G	ENSP00000498164.1:p.Gln401Arg
ENST00000648145.1:c.950A>G
ENST00000648189.1:c.996A>G
ENST00000648256.1:c.1150A>G	ENSP00000497356.1:n.1150A>G
ENST00000648314.1:c.*297A>G	ENSP00000496920.1:n.*297A>G
ENST00000648599.1:c.*461A>G	ENSP00000497159.1:n.*461A>G
ENST00000648630.1:c.1057A>G	ENSP00000497887.1:p.Arg353Gly
ENST00000648682.1:c.*18A>G	ENSP00000498185.1:n.*18A>G
ENST00000648882.1:c.*1004A>G	ENSP00000497603.1:n.*1004A>G
ENST00000648890.1:c.1178A>G	ENSP00000497503.1:p.Gln393Arg
ENST00000648915.2:c.1178A>G MANE Select	ENSP00000497160.1:p.Gln393Arg
ENST00000649545.1:c.599A>G
ENST00000649688.1:c.*471A>G	ENSP00000497097.1:n.*471A>G
ENST00000649814.1:n.1227A>G
ENST00000650270.1:c.1045A>G
ENST00000273783.7:c.1178A>G	ENSP00000273783.3:p.Gln393Arg
ENST00000432982.5:c.246-291A>G
ENST00000444495.1:c.1178A>G	ENSP00000409142.1:p.Gln393Arg
ENST00000479833.1:n.379A>G
ENST00000481054.5:n.1272A>G
ENST00000491144.5:n.1682A>G
ENST00000492773.5:n.61A>G
NM_003907.2:c.1178A>G	NP_003898.2:p.Gln393Arg
XM_011513265.1:c.428A>G	XP_011511567.1:p.Gln143Arg
XM_011513266.1:c.341A>G	XP_011511568.1:p.Gln114Arg
XR_924208.1:n.2129A>G
NM_003907.3:c.1178A>G MANE Select	NP_003898.2:p.Gln393Arg
XM_011513266.3:c.341A>G	XP_011511568.1:p.Gln114Arg
XR_001740352.2:n.1541A>G
XR_001740353.2:n.1541A>G
XR_924208.2:n.1541A>G