Canonical Allele Identifier: CA355386629

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184141931-A-G
• MyVariant Identifiers: chr3:g.183859719A>G (hg19) ; chr3:g.184141931A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184141931A>G , CM000665.2:g.184141931A>G	GRCh38
NC_000003.11:g.183859719A>G , CM000665.1:g.183859719A>G	GRCh37
NC_000003.10:g.185342413A>G	NCBI36
NG_015826.1:g.11910A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1186A>G
ENST00000468748.7:n.1406A>G
ENST00000484154.2:n.1393A>G
ENST00000491008.6:n.1911A>G
ENST00000492226.2:n.1430A>G
ENST00000492773.6:c.917A>G
ENST00000647636.1:c.*12A>G	ENSP00000497505.1:n.*12A>G
ENST00000647909.1:c.1187A>G	ENSP00000498164.1:p.Asn396Ser
ENST00000648145.1:c.935A>G
ENST00000648189.1:c.981A>G
ENST00000648256.1:c.1135A>G	ENSP00000497356.1:n.1135A>G
ENST00000648314.1:c.*282A>G	ENSP00000496920.1:n.*282A>G
ENST00000648599.1:c.*446A>G	ENSP00000497159.1:n.*446A>G
ENST00000648630.1:c.1042A>G	ENSP00000497887.1:p.Thr348Ala
ENST00000648682.1:c.*3A>G	ENSP00000498185.1:n.*3A>G
ENST00000648882.1:c.*989A>G	ENSP00000497603.1:n.*989A>G
ENST00000648890.1:c.1163A>G	ENSP00000497503.1:p.Asn388Ser
ENST00000648915.2:c.1163A>G MANE Select	ENSP00000497160.1:p.Asn388Ser
ENST00000649545.1:c.584A>G
ENST00000649688.1:c.*456A>G	ENSP00000497097.1:n.*456A>G
ENST00000649814.1:n.1212A>G
ENST00000650270.1:c.1030A>G
ENST00000273783.7:c.1163A>G	ENSP00000273783.3:p.Asn388Ser
ENST00000432982.5:c.246-306A>G
ENST00000444495.1:c.1163A>G	ENSP00000409142.1:p.Asn388Ser
ENST00000479833.1:n.364A>G
ENST00000481054.5:n.1257A>G
ENST00000491144.5:n.1667A>G
ENST00000492773.5:n.46A>G
NM_003907.2:c.1163A>G	NP_003898.2:p.Asn388Ser
XM_011513265.1:c.413A>G	XP_011511567.1:p.Asn138Ser
XM_011513266.1:c.326A>G	XP_011511568.1:p.Asn109Ser
XR_924208.1:n.2114A>G
NM_003907.3:c.1163A>G MANE Select	NP_003898.2:p.Asn388Ser
XM_011513266.3:c.326A>G	XP_011511568.1:p.Asn109Ser
XR_001740352.2:n.1526A>G
XR_001740353.2:n.1526A>G
XR_924208.2:n.1526A>G