Canonical Allele Identifier: CA355382364

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855800T>G (hg19) ; chr3:g.184138012T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138012T>G , CM000665.2:g.184138012T>G	GRCh38
NC_000003.11:g.183855800T>G , CM000665.1:g.183855800T>G	GRCh37
NC_000003.10:g.185338494T>G	NCBI36
NG_015826.1:g.7991T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.644T>G
ENST00000468748.7:n.604T>G
ENST00000484154.2:n.1242T>G
ENST00000491008.6:n.1369T>G
ENST00000492226.2:n.618T>G
ENST00000492773.6:c.353T>G
ENST00000647636.1:c.621T>G	ENSP00000497505.1:p.Ser207Arg
ENST00000647909.1:c.645T>G	ENSP00000498164.1:p.Ser215Arg
ENST00000648145.1:c.389T>G
ENST00000648189.1:c.371T>G
ENST00000648256.1:c.570T>G	ENSP00000497356.1:p.Ser190Arg
ENST00000648314.1:c.621T>G	ENSP00000496920.1:p.Ser207Arg
ENST00000648599.1:c.621T>G	ENSP00000497159.1:p.Ser207Arg
ENST00000648630.1:c.615T>G	ENSP00000497887.1:p.Ser205Arg
ENST00000648682.1:c.621T>G	ENSP00000498185.1:p.Ser207Arg
ENST00000648882.1:c.*447T>G	ENSP00000497603.1:n.*447T>G
ENST00000648890.1:c.621T>G	ENSP00000497503.1:p.Ser207Arg
ENST00000648915.2:c.621T>G MANE Select	ENSP00000497160.1:p.Ser207Arg
ENST00000649545.1:c.355T>G
ENST00000649688.1:c.621T>G	ENSP00000497097.1:p.Ser207Arg
ENST00000649814.1:n.670T>G
ENST00000650270.1:c.488T>G
ENST00000273783.7:c.621T>G	ENSP00000273783.3:p.Ser207Arg
ENST00000432982.5:c.245+1337T>G
ENST00000444495.1:c.621T>G	ENSP00000409142.1:p.Ser207Arg
ENST00000468748.5:n.74T>G
ENST00000481054.5:n.622T>G
ENST00000491008.5:n.585T>G
ENST00000491144.5:n.1061T>G
ENST00000498831.1:n.576T>G
NM_003907.2:c.621T>G	NP_003898.2:p.Ser207Arg
XR_924208.1:n.1572T>G
NM_003907.3:c.621T>G MANE Select	NP_003898.2:p.Ser207Arg
XM_011513266.3:c.-281T>G	XP_011511568.1:n.-281T>G
XR_001740352.2:n.984T>G
XR_001740353.2:n.984T>G
XR_924208.2:n.984T>G