Canonical Allele Identifier: CA355385824

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183858389T>C (hg19) ; chr3:g.184140601T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140601T>C , CM000665.2:g.184140601T>C	GRCh38
NC_000003.11:g.183858389T>C , CM000665.1:g.183858389T>C	GRCh37
NC_000003.10:g.185341083T>C	NCBI36
NG_015826.1:g.10580T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1050T>C
ENST00000468748.7:n.1270T>C
ENST00000484154.2:n.1387-1324T>C
ENST00000491008.6:n.1775T>C
ENST00000492226.2:n.1284T>C
ENST00000492773.6:c.781T>C
ENST00000647636.1:c.1027T>C	ENSP00000497505.1:p.Tyr343His
ENST00000647909.1:c.1051T>C	ENSP00000498164.1:p.Tyr351His
ENST00000648145.1:c.795T>C
ENST00000648189.1:c.841T>C
ENST00000648256.1:c.999T>C	ENSP00000497356.1:n.999T>C
ENST00000648314.1:c.*146T>C	ENSP00000496920.1:n.*146T>C
ENST00000648599.1:c.*310T>C	ENSP00000497159.1:n.*310T>C
ENST00000648630.1:c.1021T>C	ENSP00000497887.1:p.Tyr341His
ENST00000648682.1:c.1027T>C	ENSP00000498185.1:p.Tyr343His
ENST00000648882.1:c.*853T>C	ENSP00000497603.1:n.*853T>C
ENST00000648890.1:c.1027T>C	ENSP00000497503.1:p.Tyr343His
ENST00000648915.2:c.1027T>C MANE Select	ENSP00000497160.1:p.Tyr343His
ENST00000649545.1:c.577+444T>C
ENST00000649688.1:c.*310T>C	ENSP00000497097.1:n.*310T>C
ENST00000649814.1:n.1076T>C
ENST00000650270.1:c.894T>C
ENST00000273783.7:c.1027T>C	ENSP00000273783.3:p.Tyr343His
ENST00000432982.5:c.246-1636T>C
ENST00000444495.1:c.1027T>C	ENSP00000409142.1:p.Tyr343His
ENST00000479833.1:n.343T>C
ENST00000481054.5:n.1121T>C
ENST00000491144.5:n.1531T>C
ENST00000493740.1:n.257T>C
NM_003907.2:c.1027T>C	NP_003898.2:p.Tyr343His
XM_011513265.1:c.277T>C	XP_011511567.1:p.Tyr93His
XM_011513266.1:c.190T>C	XP_011511568.1:p.Tyr64His
XR_924208.1:n.1978T>C
NM_003907.3:c.1027T>C MANE Select	NP_003898.2:p.Tyr343His
XM_011513266.3:c.190T>C	XP_011511568.1:p.Tyr64His
XR_001740352.2:n.1390T>C
XR_001740353.2:n.1390T>C
XR_924208.2:n.1390T>C