Canonical Allele Identifier: CA355382357

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855797T>G (hg19) ; chr3:g.184138009T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138009T>G , CM000665.2:g.184138009T>G	GRCh38
NC_000003.11:g.183855797T>G , CM000665.1:g.183855797T>G	GRCh37
NC_000003.10:g.185338491T>G	NCBI36
NG_015826.1:g.7988T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.641T>G
ENST00000468748.7:n.601T>G
ENST00000484154.2:n.1239T>G
ENST00000491008.6:n.1366T>G
ENST00000492226.2:n.615T>G
ENST00000492773.6:c.350T>G
ENST00000647636.1:c.618T>G	ENSP00000497505.1:p.Asp206Glu
ENST00000647909.1:c.642T>G	ENSP00000498164.1:p.Asp214Glu
ENST00000648145.1:c.386T>G
ENST00000648189.1:c.368T>G
ENST00000648256.1:c.567T>G	ENSP00000497356.1:p.Asp189Glu
ENST00000648314.1:c.618T>G	ENSP00000496920.1:p.Asp206Glu
ENST00000648599.1:c.618T>G	ENSP00000497159.1:p.Asp206Glu
ENST00000648630.1:c.612T>G	ENSP00000497887.1:p.Asp204Glu
ENST00000648682.1:c.618T>G	ENSP00000498185.1:p.Asp206Glu
ENST00000648882.1:c.*444T>G	ENSP00000497603.1:n.*444T>G
ENST00000648890.1:c.618T>G	ENSP00000497503.1:p.Asp206Glu
ENST00000648915.2:c.618T>G MANE Select	ENSP00000497160.1:p.Asp206Glu
ENST00000649545.1:c.352T>G
ENST00000649688.1:c.618T>G	ENSP00000497097.1:p.Asp206Glu
ENST00000649814.1:n.667T>G
ENST00000650270.1:c.485T>G
ENST00000273783.7:c.618T>G	ENSP00000273783.3:p.Asp206Glu
ENST00000432982.5:c.245+1334T>G
ENST00000444495.1:c.618T>G	ENSP00000409142.1:p.Asp206Glu
ENST00000468748.5:n.71T>G
ENST00000481054.5:n.619T>G
ENST00000491008.5:n.582T>G
ENST00000491144.5:n.1058T>G
ENST00000498831.1:n.573T>G
NM_003907.2:c.618T>G	NP_003898.2:p.Asp206Glu
XR_924208.1:n.1569T>G
NM_003907.3:c.618T>G MANE Select	NP_003898.2:p.Asp206Glu
XM_011513266.3:c.-284T>G	XP_011511568.1:n.-284T>G
XR_001740352.2:n.981T>G
XR_001740353.2:n.981T>G
XR_924208.2:n.981T>G