Canonical Allele Identifier: CA2726429

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 2157004
• ClinVar RCV Id: RCV003091057
• dbSNP Id: rs779505311
• ExAC: 3:183855782 G / A
• gnomAD v2: 3-183855782-G-A
• gnomAD v4: 3-184137994-G-A
• MyVariant Identifiers: chr3:g.183855782G>A (hg19) ; chr3:g.184137994G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137994G>A , CM000665.2:g.184137994G>A	GRCh38
NC_000003.11:g.183855782G>A , CM000665.1:g.183855782G>A	GRCh37
NC_000003.10:g.185338476G>A	NCBI36
NG_015826.1:g.7973G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.626G>A
ENST00000468748.7:n.586G>A
ENST00000484154.2:n.1224G>A
ENST00000491008.6:n.1351G>A
ENST00000492226.2:n.600G>A
ENST00000492773.6:c.335G>A
ENST00000647636.1:c.603G>A	ENSP00000497505.1:p.Val201=
ENST00000647909.1:c.627G>A	ENSP00000498164.1:p.Val209=
ENST00000648145.1:c.371G>A
ENST00000648189.1:c.353G>A
ENST00000648256.1:c.552G>A	ENSP00000497356.1:p.Val184=
ENST00000648314.1:c.603G>A	ENSP00000496920.1:p.Val201=
ENST00000648599.1:c.603G>A	ENSP00000497159.1:p.Val201=
ENST00000648630.1:c.597G>A	ENSP00000497887.1:p.Val199=
ENST00000648682.1:c.603G>A	ENSP00000498185.1:p.Val201=
ENST00000648882.1:c.*429G>A	ENSP00000497603.1:n.*429G>A
ENST00000648890.1:c.603G>A	ENSP00000497503.1:p.Val201=
ENST00000648915.2:c.603G>A MANE Select	ENSP00000497160.1:p.Val201=
ENST00000649545.1:c.337G>A
ENST00000649688.1:c.603G>A	ENSP00000497097.1:p.Val201=
ENST00000649814.1:n.652G>A
ENST00000650270.1:c.470G>A
ENST00000273783.7:c.603G>A	ENSP00000273783.3:p.Val201=
ENST00000432982.5:c.245+1319G>A
ENST00000444495.1:c.603G>A	ENSP00000409142.1:p.Val201=
ENST00000468748.5:n.56G>A
ENST00000481054.5:n.604G>A
ENST00000491008.5:n.567G>A
ENST00000491144.5:n.1043G>A
ENST00000498831.1:n.558G>A
NM_003907.2:c.603G>A	NP_003898.2:p.Val201=
XR_924208.1:n.1554G>A
NM_003907.3:c.603G>A MANE Select	NP_003898.2:p.Val201=
XM_011513266.3:c.-299G>A	XP_011511568.1:n.-299G>A
XR_001740352.2:n.966G>A
XR_001740353.2:n.966G>A
XR_924208.2:n.966G>A