Canonical Allele Identifier: CA2726665

Gene: EIF2B5

Linked Data

• dbSNP Id: rs762175928
• ExAC: 3:183860066 G / T
• gnomAD v2: 3-183860066-G-T
• gnomAD v4: 3-184142278-G-T
• MyVariant Identifiers: chr3:g.183860066G>T (hg19) ; chr3:g.184142278G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184142278G>T , CM000665.2:g.184142278G>T	GRCh38
NC_000003.11:g.183860066G>T , CM000665.1:g.183860066G>T	GRCh37
NC_000003.10:g.185342760G>T	NCBI36
NG_015826.1:g.12257G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.1367G>T
ENST00000468748.7:n.1587G>T
ENST00000484154.2:n.1574G>T
ENST00000491008.6:n.2092G>T
ENST00000492226.2:n.1611G>T
ENST00000492773.6:c.1098G>T
ENST00000647636.1:c.*193G>T	ENSP00000497505.1:n.*193G>T
ENST00000647909.1:c.1368G>T	ENSP00000498164.1:p.Val456=
ENST00000648145.1:c.1116G>T
ENST00000648189.1:c.1162G>T
ENST00000648256.1:c.1316G>T	ENSP00000497356.1:n.1316G>T
ENST00000648314.1:c.*463G>T	ENSP00000496920.1:n.*463G>T
ENST00000648599.1:c.*627G>T	ENSP00000497159.1:n.*627G>T
ENST00000648630.1:c.1223G>T	ENSP00000497887.1:n.1223G>T
ENST00000648682.1:c.*184G>T	ENSP00000498185.1:n.*184G>T
ENST00000648882.1:c.*1170G>T	ENSP00000497603.1:n.*1170G>T
ENST00000648890.1:c.1344G>T	ENSP00000497503.1:p.Val448=
ENST00000648915.2:c.1344G>T MANE Select	ENSP00000497160.1:p.Val448=
ENST00000649545.1:c.724-20G>T
ENST00000649688.1:c.*637G>T	ENSP00000497097.1:n.*637G>T
ENST00000649814.1:n.1393G>T
ENST00000650270.1:c.1211G>T
ENST00000273783.7:c.1344G>T	ENSP00000273783.3:p.Val448=
ENST00000432982.5:c.287G>T
ENST00000444495.1:c.1344G>T	ENSP00000409142.1:p.Val448=
ENST00000479250.1:n.171G>T
ENST00000481054.5:n.1438G>T
ENST00000491144.5:n.1848G>T
ENST00000492773.5:n.227G>T
NM_003907.2:c.1344G>T	NP_003898.2:p.Val448=
XM_011513265.1:c.594G>T	XP_011511567.1:p.Val198=
XM_011513266.1:c.507G>T	XP_011511568.1:p.Val169=
XR_924208.1:n.2295G>T
NM_003907.3:c.1344G>T MANE Select	NP_003898.2:p.Val448=
XM_011513266.3:c.507G>T	XP_011511568.1:p.Val169=
XR_001740352.2:n.1707G>T
XR_001740353.2:n.1707G>T
XR_924208.2:n.1707G>T