Canonical Allele Identifier: CA355386664

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1208561560
• gnomAD v3: 3-184141942-G-C
• gnomAD v4: 3-184141942-G-C
• MyVariant Identifiers: chr3:g.183859730G>C (hg19) ; chr3:g.184141942G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184141942G>C , CM000665.2:g.184141942G>C	GRCh38
NC_000003.11:g.183859730G>C , CM000665.1:g.183859730G>C	GRCh37
NC_000003.10:g.185342424G>C	NCBI36
NG_015826.1:g.11921G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1197G>C
ENST00000468748.7:n.1417G>C
ENST00000484154.2:n.1404G>C
ENST00000491008.6:n.1922G>C
ENST00000492226.2:n.1441G>C
ENST00000492773.6:c.928G>C
ENST00000647636.1:c.*23G>C	ENSP00000497505.1:n.*23G>C
ENST00000647909.1:c.1198G>C	ENSP00000498164.1:p.Asp400His
ENST00000648145.1:c.946G>C
ENST00000648189.1:c.992G>C
ENST00000648256.1:c.1146G>C	ENSP00000497356.1:n.1146G>C
ENST00000648314.1:c.*293G>C	ENSP00000496920.1:n.*293G>C
ENST00000648599.1:c.*457G>C	ENSP00000497159.1:n.*457G>C
ENST00000648630.1:c.1053G>C	ENSP00000497887.1:p.Trp351Cys
ENST00000648682.1:c.*14G>C	ENSP00000498185.1:n.*14G>C
ENST00000648882.1:c.*1000G>C	ENSP00000497603.1:n.*1000G>C
ENST00000648890.1:c.1174G>C	ENSP00000497503.1:p.Asp392His
ENST00000648915.2:c.1174G>C MANE Select	ENSP00000497160.1:p.Asp392His
ENST00000649545.1:c.595G>C
ENST00000649688.1:c.*467G>C	ENSP00000497097.1:n.*467G>C
ENST00000649814.1:n.1223G>C
ENST00000650270.1:c.1041G>C
ENST00000273783.7:c.1174G>C	ENSP00000273783.3:p.Asp392His
ENST00000432982.5:c.246-295G>C
ENST00000444495.1:c.1174G>C	ENSP00000409142.1:p.Asp392His
ENST00000479833.1:n.375G>C
ENST00000481054.5:n.1268G>C
ENST00000491144.5:n.1678G>C
ENST00000492773.5:n.57G>C
NM_003907.2:c.1174G>C	NP_003898.2:p.Asp392His
XM_011513265.1:c.424G>C	XP_011511567.1:p.Asp142His
XM_011513266.1:c.337G>C	XP_011511568.1:p.Asp113His
XR_924208.1:n.2125G>C
NM_003907.3:c.1174G>C MANE Select	NP_003898.2:p.Asp392His
XM_011513266.3:c.337G>C	XP_011511568.1:p.Asp113His
XR_001740352.2:n.1537G>C
XR_001740353.2:n.1537G>C
XR_924208.2:n.1537G>C