Canonical Allele Identifier: CA88840486

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1051462371
• gnomAD v3: 3-184138023-G-A
• gnomAD v4: 3-184138023-G-A
• MyVariant Identifiers: chr3:g.183855811G>A (hg19) ; chr3:g.184138023G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138023G>A , CM000665.2:g.184138023G>A	GRCh38
NC_000003.11:g.183855811G>A , CM000665.1:g.183855811G>A	GRCh37
NC_000003.10:g.185338505G>A	NCBI36
NG_015826.1:g.8002G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.655G>A
ENST00000468748.7:n.615G>A
ENST00000484154.2:n.1253G>A
ENST00000491008.6:n.1380G>A
ENST00000492226.2:n.629G>A
ENST00000492773.6:c.364G>A
ENST00000647636.1:c.632G>A	ENSP00000497505.1:p.Arg211Lys
ENST00000647909.1:c.656G>A	ENSP00000498164.1:p.Arg219Lys
ENST00000648145.1:c.400G>A
ENST00000648189.1:c.382G>A
ENST00000648256.1:c.581G>A	ENSP00000497356.1:p.Arg194Lys
ENST00000648314.1:c.632G>A	ENSP00000496920.1:p.Arg211Lys
ENST00000648599.1:c.632G>A	ENSP00000497159.1:p.Arg211Lys
ENST00000648630.1:c.626G>A	ENSP00000497887.1:p.Arg209Lys
ENST00000648682.1:c.632G>A	ENSP00000498185.1:p.Arg211Lys
ENST00000648882.1:c.*458G>A	ENSP00000497603.1:n.*458G>A
ENST00000648890.1:c.632G>A	ENSP00000497503.1:p.Arg211Lys
ENST00000648915.2:c.632G>A MANE Select	ENSP00000497160.1:p.Arg211Lys
ENST00000649545.1:c.366G>A
ENST00000649688.1:c.632G>A	ENSP00000497097.1:p.Arg211Lys
ENST00000649814.1:n.681G>A
ENST00000650270.1:c.499G>A
ENST00000273783.7:c.632G>A	ENSP00000273783.3:p.Arg211Lys
ENST00000432982.5:c.245+1348G>A
ENST00000444495.1:c.632G>A	ENSP00000409142.1:p.Arg211Lys
ENST00000468748.5:n.85G>A
ENST00000481054.5:n.633G>A
ENST00000491008.5:n.596G>A
ENST00000491144.5:n.1072G>A
ENST00000498831.1:n.587G>A
NM_003907.2:c.632G>A	NP_003898.2:p.Arg211Lys
XR_924208.1:n.1583G>A
NM_003907.3:c.632G>A MANE Select	NP_003898.2:p.Arg211Lys
XM_011513266.3:c.-270G>A	XP_011511568.1:n.-270G>A
XR_001740352.2:n.995G>A
XR_001740353.2:n.995G>A
XR_924208.2:n.995G>A