Canonical Allele Identifier: CA437147808

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183859789T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184142001T>A , CM000665.2:g.184142001T>A	GRCh38
NC_000003.11:g.183859789T>A , CM000665.1:g.183859789T>A	GRCh37
NC_000003.10:g.185342483T>A	NCBI36
NG_015826.1:g.11980T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1256T>A
ENST00000468748.7:n.1476T>A
ENST00000484154.2:n.1463T>A
ENST00000491008.6:n.1981T>A
ENST00000492226.2:n.1500T>A
ENST00000492773.6:c.987T>A
ENST00000647636.1:c.*82T>A	ENSP00000497505.1:n.*82T>A
ENST00000647909.1:c.1257T>A	ENSP00000498164.1:p.Ser419=
ENST00000648145.1:c.1005T>A
ENST00000648189.1:c.1051T>A
ENST00000648256.1:c.1205T>A	ENSP00000497356.1:n.1205T>A
ENST00000648314.1:c.*352T>A	ENSP00000496920.1:n.*352T>A
ENST00000648599.1:c.*516T>A	ENSP00000497159.1:n.*516T>A
ENST00000648630.1:c.1112T>A	ENSP00000497887.1:p.Leu371His
ENST00000648682.1:c.*73T>A	ENSP00000498185.1:n.*73T>A
ENST00000648882.1:c.*1059T>A	ENSP00000497603.1:n.*1059T>A
ENST00000648890.1:c.1233T>A	ENSP00000497503.1:p.Ser411=
ENST00000648915.2:c.1233T>A MANE Select	ENSP00000497160.1:p.Ser411=
ENST00000649545.1:c.654T>A
ENST00000649688.1:c.*526T>A	ENSP00000497097.1:n.*526T>A
ENST00000649814.1:n.1282T>A
ENST00000650270.1:c.1100T>A
ENST00000273783.7:c.1233T>A	ENSP00000273783.3:p.Ser411=
ENST00000432982.5:c.246-236T>A
ENST00000444495.1:c.1233T>A	ENSP00000409142.1:p.Ser411=
ENST00000479833.1:n.434T>A
ENST00000481054.5:n.1327T>A
ENST00000491144.5:n.1737T>A
ENST00000492773.5:n.116T>A
NM_003907.2:c.1233T>A	NP_003898.2:p.Ser411=
XM_011513265.1:c.483T>A	XP_011511567.1:p.Ser161=
XM_011513266.1:c.396T>A	XP_011511568.1:p.Ser132=
XR_924208.1:n.2184T>A
NM_003907.3:c.1233T>A MANE Select	NP_003898.2:p.Ser411=
XM_011513266.3:c.396T>A	XP_011511568.1:p.Ser132=
XR_001740352.2:n.1596T>A
XR_001740353.2:n.1596T>A
XR_924208.2:n.1596T>A