Canonical Allele Identifier: CA355383413

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184140110-T-C
• MyVariant Identifiers: chr3:g.183857898T>C (hg19) ; chr3:g.184140110T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140110T>C , CM000665.2:g.184140110T>C	GRCh38
NC_000003.11:g.183857898T>C , CM000665.1:g.183857898T>C	GRCh37
NC_000003.10:g.185340592T>C	NCBI36
NG_015826.1:g.10089T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.819T>C
ENST00000468748.7:n.779T>C
ENST00000484154.2:n.1387-1815T>C
ENST00000491008.6:n.1544T>C
ENST00000492226.2:n.793T>C
ENST00000492773.6:c.550T>C
ENST00000647636.1:c.796T>C	ENSP00000497505.1:p.Tyr266His
ENST00000647909.1:c.820T>C	ENSP00000498164.1:p.Tyr274His
ENST00000648145.1:c.564T>C
ENST00000648189.1:c.546T>C
ENST00000648256.1:c.768T>C	ENSP00000497356.1:p.Thr256=
ENST00000648314.1:c.796T>C	ENSP00000496920.1:p.Tyr266His
ENST00000648599.1:c.*79T>C	ENSP00000497159.1:n.*79T>C
ENST00000648630.1:c.790T>C	ENSP00000497887.1:p.Tyr264His
ENST00000648682.1:c.796T>C	ENSP00000498185.1:p.Tyr266His
ENST00000648882.1:c.*622T>C	ENSP00000497603.1:n.*622T>C
ENST00000648890.1:c.796T>C	ENSP00000497503.1:p.Tyr266His
ENST00000648915.2:c.796T>C MANE Select	ENSP00000497160.1:p.Tyr266His
ENST00000649545.1:c.530T>C
ENST00000649688.1:c.*79T>C	ENSP00000497097.1:n.*79T>C
ENST00000649814.1:n.845T>C
ENST00000650270.1:c.663T>C
ENST00000273783.7:c.796T>C	ENSP00000273783.3:p.Tyr266His
ENST00000432982.5:c.246-2127T>C
ENST00000444495.1:c.796T>C	ENSP00000409142.1:p.Tyr266His
ENST00000468748.5:n.249T>C
ENST00000479833.1:n.112T>C
ENST00000481054.5:n.890T>C
ENST00000491008.5:n.760T>C
ENST00000491144.5:n.1236T>C
NM_003907.2:c.796T>C	NP_003898.2:p.Tyr266His
XM_011513265.1:c.46T>C	XP_011511567.1:p.Tyr16His
XR_924208.1:n.1747T>C
NM_003907.3:c.796T>C MANE Select	NP_003898.2:p.Tyr266His
XM_011513266.3:c.-106T>C	XP_011511568.1:n.-106T>C
XR_001740352.2:n.1159T>C
XR_001740353.2:n.1159T>C
XR_924208.2:n.1159T>C