Canonical Allele Identifier: CA355386723

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184141953-C-A
• MyVariant Identifiers: chr3:g.183859741C>A (hg19) ; chr3:g.184141953C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184141953C>A , CM000665.2:g.184141953C>A	GRCh38
NC_000003.11:g.183859741C>A , CM000665.1:g.183859741C>A	GRCh37
NC_000003.10:g.185342435C>A	NCBI36
NG_015826.1:g.11932C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.1208C>A
ENST00000468748.7:n.1428C>A
ENST00000484154.2:n.1415C>A
ENST00000491008.6:n.1933C>A
ENST00000492226.2:n.1452C>A
ENST00000492773.6:c.939C>A
ENST00000647636.1:c.*34C>A	ENSP00000497505.1:n.*34C>A
ENST00000647909.1:c.1209C>A	ENSP00000498164.1:p.Tyr403Ter
ENST00000648145.1:c.957C>A
ENST00000648189.1:c.1003C>A
ENST00000648256.1:c.1157C>A	ENSP00000497356.1:n.1157C>A
ENST00000648314.1:c.*304C>A	ENSP00000496920.1:n.*304C>A
ENST00000648599.1:c.*468C>A	ENSP00000497159.1:n.*468C>A
ENST00000648630.1:c.1064C>A	ENSP00000497887.1:p.Thr355Asn
ENST00000648682.1:c.*25C>A	ENSP00000498185.1:n.*25C>A
ENST00000648882.1:c.*1011C>A	ENSP00000497603.1:n.*1011C>A
ENST00000648890.1:c.1185C>A	ENSP00000497503.1:p.Tyr395Ter
ENST00000648915.2:c.1185C>A MANE Select	ENSP00000497160.1:p.Tyr395Ter
ENST00000649545.1:c.606C>A
ENST00000649688.1:c.*478C>A	ENSP00000497097.1:n.*478C>A
ENST00000649814.1:n.1234C>A
ENST00000650270.1:c.1052C>A
ENST00000273783.7:c.1185C>A	ENSP00000273783.3:p.Tyr395Ter
ENST00000432982.5:c.246-284C>A
ENST00000444495.1:c.1185C>A	ENSP00000409142.1:p.Tyr395Ter
ENST00000479833.1:n.386C>A
ENST00000481054.5:n.1279C>A
ENST00000491144.5:n.1689C>A
ENST00000492773.5:n.68C>A
NM_003907.2:c.1185C>A	NP_003898.2:p.Tyr395Ter
XM_011513265.1:c.435C>A	XP_011511567.1:p.Tyr145Ter
XM_011513266.1:c.348C>A	XP_011511568.1:p.Tyr116Ter
XR_924208.1:n.2136C>A
NM_003907.3:c.1185C>A MANE Select	NP_003898.2:p.Tyr395Ter
XM_011513266.3:c.348C>A	XP_011511568.1:p.Tyr116Ter
XR_001740352.2:n.1548C>A
XR_001740353.2:n.1548C>A
XR_924208.2:n.1548C>A