Canonical Allele Identifier: CA355381851

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 2157293
• ClinVar RCV Id: RCV003078019
• dbSNP Id: rs377197747
• gnomAD v2: 3-183855473-G-T
• gnomAD v3: 3-184137685-G-T
• gnomAD v4: 3-184137685-G-T
• MyVariant Identifiers: chr3:g.183855473G>T (hg19) ; chr3:g.184137685G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137685G>T , CM000665.2:g.184137685G>T	GRCh38
NC_000003.11:g.183855473G>T , CM000665.1:g.183855473G>T	GRCh37
NC_000003.10:g.185338167G>T	NCBI36
NG_015826.1:g.7664G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.409G>T
ENST00000468748.7:n.369G>T
ENST00000484154.2:n.1007G>T
ENST00000491008.6:n.1134G>T
ENST00000492226.2:n.383G>T
ENST00000492773.6:c.118G>T
ENST00000647636.1:c.386G>T	ENSP00000497505.1:p.Arg129Leu
ENST00000647909.1:c.386G>T	ENSP00000498164.1:p.Arg129Leu
ENST00000648145.1:c.154G>T
ENST00000648189.1:c.136G>T
ENST00000648256.1:c.335G>T	ENSP00000497356.1:p.Arg112Leu
ENST00000648314.1:c.386G>T	ENSP00000496920.1:p.Arg129Leu
ENST00000648599.1:c.386G>T	ENSP00000497159.1:p.Arg129Leu
ENST00000648630.1:c.380G>T	ENSP00000497887.1:p.Arg127Leu
ENST00000648682.1:c.386G>T	ENSP00000498185.1:p.Arg129Leu
ENST00000648882.1:c.*212G>T	ENSP00000497603.1:n.*212G>T
ENST00000648890.1:c.386G>T	ENSP00000497503.1:p.Arg129Leu
ENST00000648915.2:c.386G>T MANE Select	ENSP00000497160.1:p.Arg129Leu
ENST00000649545.1:c.120G>T
ENST00000649688.1:c.386G>T	ENSP00000497097.1:p.Arg129Leu
ENST00000649814.1:n.435G>T
ENST00000650244.1:c.531G>T	ENSP00000497227.1:n.531G>T
ENST00000650270.1:c.253G>T
ENST00000273783.7:c.386G>T	ENSP00000273783.3:p.Arg129Leu
ENST00000432982.5:c.245+1010G>T
ENST00000444495.1:c.386G>T	ENSP00000409142.1:p.Arg129Leu
ENST00000481054.5:n.387G>T
ENST00000491008.5:n.350G>T
ENST00000491144.5:n.734G>T
ENST00000498831.1:n.341G>T
NM_003907.2:c.386G>T	NP_003898.2:p.Arg129Leu
XR_924208.1:n.1337G>T
NM_003907.3:c.386G>T MANE Select	NP_003898.2:p.Arg129Leu
XM_011513266.3:c.-516G>T	XP_011511568.1:n.-516G>T
XR_001740352.2:n.749G>T
XR_001740353.2:n.749G>T
XR_924208.2:n.749G>T