Canonical Allele Identifier: CA437323367

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1713423878
• gnomAD v3: 3-184137689-A-G
• gnomAD v4: 3-184137689-A-G
• MyVariant Identifiers: chr3:g.183855477A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137689A>G , CM000665.2:g.184137689A>G	GRCh38
NC_000003.11:g.183855477A>G , CM000665.1:g.183855477A>G	GRCh37
NC_000003.10:g.185338171A>G	NCBI36
NG_015826.1:g.7668A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.413A>G
ENST00000468748.7:n.373A>G
ENST00000484154.2:n.1011A>G
ENST00000491008.6:n.1138A>G
ENST00000492226.2:n.387A>G
ENST00000492773.6:c.122A>G
ENST00000647636.1:c.390A>G	ENSP00000497505.1:p.Ser130=
ENST00000647909.1:c.390A>G	ENSP00000498164.1:p.Ser130=
ENST00000648145.1:c.158A>G
ENST00000648189.1:c.140A>G
ENST00000648256.1:c.339A>G	ENSP00000497356.1:p.Ser113=
ENST00000648314.1:c.390A>G	ENSP00000496920.1:p.Ser130=
ENST00000648599.1:c.390A>G	ENSP00000497159.1:p.Ser130=
ENST00000648630.1:c.384A>G	ENSP00000497887.1:p.Ser128=
ENST00000648682.1:c.390A>G	ENSP00000498185.1:p.Ser130=
ENST00000648882.1:c.*216A>G	ENSP00000497603.1:n.*216A>G
ENST00000648890.1:c.390A>G	ENSP00000497503.1:p.Ser130=
ENST00000648915.2:c.390A>G MANE Select	ENSP00000497160.1:p.Ser130=
ENST00000649545.1:c.124A>G
ENST00000649688.1:c.390A>G	ENSP00000497097.1:p.Ser130=
ENST00000649814.1:n.439A>G
ENST00000650244.1:c.535A>G	ENSP00000497227.1:n.535A>G
ENST00000650270.1:c.257A>G
ENST00000273783.7:c.390A>G	ENSP00000273783.3:p.Ser130=
ENST00000432982.5:c.245+1014A>G
ENST00000444495.1:c.390A>G	ENSP00000409142.1:p.Ser130=
ENST00000481054.5:n.391A>G
ENST00000491008.5:n.354A>G
ENST00000491144.5:n.738A>G
ENST00000498831.1:n.345A>G
NM_003907.2:c.390A>G	NP_003898.2:p.Ser130=
XR_924208.1:n.1341A>G
NM_003907.3:c.390A>G MANE Select	NP_003898.2:p.Ser130=
XM_011513266.3:c.-512A>G	XP_011511568.1:n.-512A>G
XR_001740352.2:n.753A>G
XR_001740353.2:n.753A>G
XR_924208.2:n.753A>G