Canonical Allele Identifier: CA355382475

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184138064-G-T
• MyVariant Identifiers: chr3:g.183855852G>T (hg19) ; chr3:g.184138064G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138064G>T , CM000665.2:g.184138064G>T	GRCh38
NC_000003.11:g.183855852G>T , CM000665.1:g.183855852G>T	GRCh37
NC_000003.10:g.185338546G>T	NCBI36
NG_015826.1:g.8043G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.696G>T
ENST00000468748.7:n.656G>T
ENST00000484154.2:n.1294G>T
ENST00000491008.6:n.1421G>T
ENST00000492226.2:n.670G>T
ENST00000492773.6:c.405G>T
ENST00000647636.1:c.673G>T	ENSP00000497505.1:p.Ala225Ser
ENST00000647909.1:c.697G>T	ENSP00000498164.1:p.Ala233Ser
ENST00000648145.1:c.441G>T
ENST00000648189.1:c.423G>T
ENST00000648256.1:c.622G>T	ENSP00000497356.1:p.Ala208Ser
ENST00000648314.1:c.673G>T	ENSP00000496920.1:p.Ala225Ser
ENST00000648599.1:c.673G>T	ENSP00000497159.1:p.Ala225Ser
ENST00000648630.1:c.667G>T	ENSP00000497887.1:p.Ala223Ser
ENST00000648682.1:c.673G>T	ENSP00000498185.1:p.Ala225Ser
ENST00000648882.1:c.*499G>T	ENSP00000497603.1:n.*499G>T
ENST00000648890.1:c.673G>T	ENSP00000497503.1:p.Ala225Ser
ENST00000648915.2:c.673G>T MANE Select	ENSP00000497160.1:p.Ala225Ser
ENST00000649545.1:c.407G>T
ENST00000649688.1:c.673G>T	ENSP00000497097.1:p.Ala225Ser
ENST00000649814.1:n.722G>T
ENST00000650270.1:c.540G>T
ENST00000273783.7:c.673G>T	ENSP00000273783.3:p.Ala225Ser
ENST00000432982.5:c.245+1389G>T
ENST00000444495.1:c.673G>T	ENSP00000409142.1:p.Ala225Ser
ENST00000468748.5:n.126G>T
ENST00000481054.5:n.674G>T
ENST00000491008.5:n.637G>T
ENST00000491144.5:n.1113G>T
NM_003907.2:c.673G>T	NP_003898.2:p.Ala225Ser
XR_924208.1:n.1624G>T
NM_003907.3:c.673G>T MANE Select	NP_003898.2:p.Ala225Ser
XM_011513266.3:c.-229G>T	XP_011511568.1:n.-229G>T
XR_001740352.2:n.1036G>T
XR_001740353.2:n.1036G>T
XR_924208.2:n.1036G>T