Canonical Allele Identifier: CA88840414

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 802032
• ClinVar RCV Id: RCV000987370 ; RCV001385130 ; RCV003928634
• dbSNP Id: rs958193703
• gnomAD v4: 3-184137706-G-A
• MyVariant Identifiers: chr3:g.183855494G>A (hg19) ; chr3:g.184137706G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137706G>A , CM000665.2:g.184137706G>A	GRCh38
NC_000003.11:g.183855494G>A , CM000665.1:g.183855494G>A	GRCh37
NC_000003.10:g.185338188G>A	NCBI36
NG_015826.1:g.7685G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.430G>A
ENST00000468748.7:n.390G>A
ENST00000484154.2:n.1028G>A
ENST00000491008.6:n.1155G>A
ENST00000492226.2:n.404G>A
ENST00000492773.6:c.139G>A
ENST00000647636.1:c.407G>A	ENSP00000497505.1:p.Arg136His
ENST00000647909.1:c.407G>A	ENSP00000498164.1:p.Arg136His
ENST00000648145.1:c.175G>A
ENST00000648189.1:c.157G>A
ENST00000648256.1:c.356G>A	ENSP00000497356.1:p.Arg119His
ENST00000648314.1:c.407G>A	ENSP00000496920.1:p.Arg136His
ENST00000648599.1:c.407G>A	ENSP00000497159.1:p.Arg136His
ENST00000648630.1:c.401G>A	ENSP00000497887.1:p.Arg134His
ENST00000648682.1:c.407G>A	ENSP00000498185.1:p.Arg136His
ENST00000648882.1:c.*233G>A	ENSP00000497603.1:n.*233G>A
ENST00000648890.1:c.407G>A	ENSP00000497503.1:p.Arg136His
ENST00000648915.2:c.407G>A MANE Select	ENSP00000497160.1:p.Arg136His
ENST00000649545.1:c.141G>A
ENST00000649688.1:c.407G>A	ENSP00000497097.1:p.Arg136His
ENST00000649814.1:n.456G>A
ENST00000650244.1:c.552G>A	ENSP00000497227.1:n.552G>A
ENST00000650270.1:c.274G>A
ENST00000273783.7:c.407G>A	ENSP00000273783.3:p.Arg136His
ENST00000432982.5:c.245+1031G>A
ENST00000444495.1:c.407G>A	ENSP00000409142.1:p.Arg136His
ENST00000481054.5:n.408G>A
ENST00000491008.5:n.371G>A
ENST00000491144.5:n.755G>A
ENST00000498831.1:n.362G>A
NM_003907.2:c.407G>A	NP_003898.2:p.Arg136His
XR_924208.1:n.1358G>A
NM_003907.3:c.407G>A MANE Select	NP_003898.2:p.Arg136His
XM_011513266.3:c.-495G>A	XP_011511568.1:n.-495G>A
XR_001740352.2:n.770G>A
XR_001740353.2:n.770G>A
XR_924208.2:n.770G>A