Canonical Allele Identifier: CA355386623

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183859718A>G (hg19) ; chr3:g.184141930A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184141930A>G , CM000665.2:g.184141930A>G	GRCh38
NC_000003.11:g.183859718A>G , CM000665.1:g.183859718A>G	GRCh37
NC_000003.10:g.185342412A>G	NCBI36
NG_015826.1:g.11909A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1185A>G
ENST00000468748.7:n.1405A>G
ENST00000484154.2:n.1392A>G
ENST00000491008.6:n.1910A>G
ENST00000492226.2:n.1429A>G
ENST00000492773.6:c.916A>G
ENST00000647636.1:c.*11A>G	ENSP00000497505.1:n.*11A>G
ENST00000647909.1:c.1186A>G	ENSP00000498164.1:p.Asn396Asp
ENST00000648145.1:c.934A>G
ENST00000648189.1:c.980A>G
ENST00000648256.1:c.1134A>G	ENSP00000497356.1:n.1134A>G
ENST00000648314.1:c.*281A>G	ENSP00000496920.1:n.*281A>G
ENST00000648599.1:c.*445A>G	ENSP00000497159.1:n.*445A>G
ENST00000648630.1:c.1041A>G	ENSP00000497887.1:p.Ile347Met
ENST00000648682.1:c.*2A>G	ENSP00000498185.1:n.*2A>G
ENST00000648882.1:c.*988A>G	ENSP00000497603.1:n.*988A>G
ENST00000648890.1:c.1162A>G	ENSP00000497503.1:p.Asn388Asp
ENST00000648915.2:c.1162A>G MANE Select	ENSP00000497160.1:p.Asn388Asp
ENST00000649545.1:c.583A>G
ENST00000649688.1:c.*455A>G	ENSP00000497097.1:n.*455A>G
ENST00000649814.1:n.1211A>G
ENST00000650270.1:c.1029A>G
ENST00000273783.7:c.1162A>G	ENSP00000273783.3:p.Asn388Asp
ENST00000432982.5:c.246-307A>G
ENST00000444495.1:c.1162A>G	ENSP00000409142.1:p.Asn388Asp
ENST00000479833.1:n.363A>G
ENST00000481054.5:n.1256A>G
ENST00000491144.5:n.1666A>G
ENST00000492773.5:n.45A>G
NM_003907.2:c.1162A>G	NP_003898.2:p.Asn388Asp
XM_011513265.1:c.412A>G	XP_011511567.1:p.Asn138Asp
XM_011513266.1:c.325A>G	XP_011511568.1:p.Asn109Asp
XR_924208.1:n.2113A>G
NM_003907.3:c.1162A>G MANE Select	NP_003898.2:p.Asn388Asp
XM_011513266.3:c.325A>G	XP_011511568.1:p.Asn109Asp
XR_001740352.2:n.1525A>G
XR_001740353.2:n.1525A>G
XR_924208.2:n.1525A>G