Canonical Allele Identifier: CA355382317

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855776C>G (hg19) ; chr3:g.184137988C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137988C>G , CM000665.2:g.184137988C>G	GRCh38
NC_000003.11:g.183855776C>G , CM000665.1:g.183855776C>G	GRCh37
NC_000003.10:g.185338470C>G	NCBI36
NG_015826.1:g.7967C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.620C>G
ENST00000468748.7:n.580C>G
ENST00000484154.2:n.1218C>G
ENST00000491008.6:n.1345C>G
ENST00000492226.2:n.594C>G
ENST00000492773.6:c.329C>G
ENST00000647636.1:c.597C>G	ENSP00000497505.1:p.Asp199Glu
ENST00000647909.1:c.621C>G	ENSP00000498164.1:p.Asp207Glu
ENST00000648145.1:c.365C>G
ENST00000648189.1:c.347C>G
ENST00000648256.1:c.546C>G	ENSP00000497356.1:p.Asp182Glu
ENST00000648314.1:c.597C>G	ENSP00000496920.1:p.Asp199Glu
ENST00000648599.1:c.597C>G	ENSP00000497159.1:p.Asp199Glu
ENST00000648630.1:c.591C>G	ENSP00000497887.1:p.Asp197Glu
ENST00000648682.1:c.597C>G	ENSP00000498185.1:p.Asp199Glu
ENST00000648882.1:c.*423C>G	ENSP00000497603.1:n.*423C>G
ENST00000648890.1:c.597C>G	ENSP00000497503.1:p.Asp199Glu
ENST00000648915.2:c.597C>G MANE Select	ENSP00000497160.1:p.Asp199Glu
ENST00000649545.1:c.331C>G
ENST00000649688.1:c.597C>G	ENSP00000497097.1:p.Asp199Glu
ENST00000649814.1:n.646C>G
ENST00000650270.1:c.464C>G
ENST00000273783.7:c.597C>G	ENSP00000273783.3:p.Asp199Glu
ENST00000432982.5:c.245+1313C>G
ENST00000444495.1:c.597C>G	ENSP00000409142.1:p.Asp199Glu
ENST00000468748.5:n.50C>G
ENST00000481054.5:n.598C>G
ENST00000491008.5:n.561C>G
ENST00000491144.5:n.1037C>G
ENST00000498831.1:n.552C>G
NM_003907.2:c.597C>G	NP_003898.2:p.Asp199Glu
XR_924208.1:n.1548C>G
NM_003907.3:c.597C>G MANE Select	NP_003898.2:p.Asp199Glu
XM_011513266.3:c.-305C>G	XP_011511568.1:n.-305C>G
XR_001740352.2:n.960C>G
XR_001740353.2:n.960C>G
XR_924208.2:n.960C>G