Canonical Allele Identifier: CA355385264

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1260977608
• gnomAD v2: 3-183858311-T-C
• gnomAD v4: 3-184140523-T-C
• MyVariant Identifiers: chr3:g.183858311T>C (hg19) ; chr3:g.184140523T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140523T>C , CM000665.2:g.184140523T>C	GRCh38
NC_000003.11:g.183858311T>C , CM000665.1:g.183858311T>C	GRCh37
NC_000003.10:g.185341005T>C	NCBI36
NG_015826.1:g.10502T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.972T>C
ENST00000468748.7:n.1192T>C
ENST00000484154.2:n.1387-1402T>C
ENST00000491008.6:n.1697T>C
ENST00000492226.2:n.1206T>C
ENST00000492773.6:c.703T>C
ENST00000647636.1:c.949T>C	ENSP00000497505.1:p.Trp317Arg
ENST00000647909.1:c.973T>C	ENSP00000498164.1:p.Trp325Arg
ENST00000648145.1:c.717T>C
ENST00000648189.1:c.763T>C
ENST00000648256.1:c.921T>C	ENSP00000497356.1:n.921T>C
ENST00000648314.1:c.*68T>C	ENSP00000496920.1:n.*68T>C
ENST00000648599.1:c.*232T>C	ENSP00000497159.1:n.*232T>C
ENST00000648630.1:c.943T>C	ENSP00000497887.1:p.Trp315Arg
ENST00000648682.1:c.949T>C	ENSP00000498185.1:p.Trp317Arg
ENST00000648882.1:c.*775T>C	ENSP00000497603.1:n.*775T>C
ENST00000648890.1:c.949T>C	ENSP00000497503.1:p.Trp317Arg
ENST00000648915.2:c.949T>C MANE Select	ENSP00000497160.1:p.Trp317Arg
ENST00000649545.1:c.577+366T>C
ENST00000649688.1:c.*232T>C	ENSP00000497097.1:n.*232T>C
ENST00000649814.1:n.998T>C
ENST00000650270.1:c.816T>C
ENST00000273783.7:c.949T>C	ENSP00000273783.3:p.Trp317Arg
ENST00000432982.5:c.246-1714T>C
ENST00000444495.1:c.949T>C	ENSP00000409142.1:p.Trp317Arg
ENST00000468748.5:n.662T>C
ENST00000479833.1:n.265T>C
ENST00000481054.5:n.1043T>C
ENST00000491144.5:n.1453T>C
ENST00000493740.1:n.179T>C
NM_003907.2:c.949T>C	NP_003898.2:p.Trp317Arg
XM_011513265.1:c.199T>C	XP_011511567.1:p.Trp67Arg
XM_011513266.1:c.112T>C	XP_011511568.1:p.Trp38Arg
XR_924208.1:n.1900T>C
NM_003907.3:c.949T>C MANE Select	NP_003898.2:p.Trp317Arg
XM_011513266.3:c.112T>C	XP_011511568.1:p.Trp38Arg
XR_001740352.2:n.1312T>C
XR_001740353.2:n.1312T>C
XR_924208.2:n.1312T>C