Canonical Allele Identifier: CA355385286

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183858313G>C (hg19) ; chr3:g.184140525G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140525G>C , CM000665.2:g.184140525G>C	GRCh38
NC_000003.11:g.183858313G>C , CM000665.1:g.183858313G>C	GRCh37
NC_000003.10:g.185341007G>C	NCBI36
NG_015826.1:g.10504G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.974G>C
ENST00000468748.7:n.1194G>C
ENST00000484154.2:n.1387-1400G>C
ENST00000491008.6:n.1699G>C
ENST00000492226.2:n.1208G>C
ENST00000492773.6:c.705G>C
ENST00000647636.1:c.951G>C	ENSP00000497505.1:p.Trp317Cys
ENST00000647909.1:c.975G>C	ENSP00000498164.1:p.Trp325Cys
ENST00000648145.1:c.719G>C
ENST00000648189.1:c.765G>C
ENST00000648256.1:c.923G>C	ENSP00000497356.1:n.923G>C
ENST00000648314.1:c.*70G>C	ENSP00000496920.1:n.*70G>C
ENST00000648599.1:c.*234G>C	ENSP00000497159.1:n.*234G>C
ENST00000648630.1:c.945G>C	ENSP00000497887.1:p.Trp315Cys
ENST00000648682.1:c.951G>C	ENSP00000498185.1:p.Trp317Cys
ENST00000648882.1:c.*777G>C	ENSP00000497603.1:n.*777G>C
ENST00000648890.1:c.951G>C	ENSP00000497503.1:p.Trp317Cys
ENST00000648915.2:c.951G>C MANE Select	ENSP00000497160.1:p.Trp317Cys
ENST00000649545.1:c.577+368G>C
ENST00000649688.1:c.*234G>C	ENSP00000497097.1:n.*234G>C
ENST00000649814.1:n.1000G>C
ENST00000650270.1:c.818G>C
ENST00000273783.7:c.951G>C	ENSP00000273783.3:p.Trp317Cys
ENST00000432982.5:c.246-1712G>C
ENST00000444495.1:c.951G>C	ENSP00000409142.1:p.Trp317Cys
ENST00000468748.5:n.664G>C
ENST00000479833.1:n.267G>C
ENST00000481054.5:n.1045G>C
ENST00000491144.5:n.1455G>C
ENST00000493740.1:n.181G>C
NM_003907.2:c.951G>C	NP_003898.2:p.Trp317Cys
XM_011513265.1:c.201G>C	XP_011511567.1:p.Trp67Cys
XM_011513266.1:c.114G>C	XP_011511568.1:p.Trp38Cys
XR_924208.1:n.1902G>C
NM_003907.3:c.951G>C MANE Select	NP_003898.2:p.Trp317Cys
XM_011513266.3:c.114G>C	XP_011511568.1:p.Trp38Cys
XR_001740352.2:n.1314G>C
XR_001740353.2:n.1314G>C
XR_924208.2:n.1314G>C