Canonical Allele Identifier: CA355382411

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855822T>C (hg19) ; chr3:g.184138034T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138034T>C , CM000665.2:g.184138034T>C	GRCh38
NC_000003.11:g.183855822T>C , CM000665.1:g.183855822T>C	GRCh37
NC_000003.10:g.185338516T>C	NCBI36
NG_015826.1:g.8013T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.666T>C
ENST00000468748.7:n.626T>C
ENST00000484154.2:n.1264T>C
ENST00000491008.6:n.1391T>C
ENST00000492226.2:n.640T>C
ENST00000492773.6:c.375T>C
ENST00000647636.1:c.643T>C	ENSP00000497505.1:p.Phe215Leu
ENST00000647909.1:c.667T>C	ENSP00000498164.1:p.Phe223Leu
ENST00000648145.1:c.411T>C
ENST00000648189.1:c.393T>C
ENST00000648256.1:c.592T>C	ENSP00000497356.1:p.Phe198Leu
ENST00000648314.1:c.643T>C	ENSP00000496920.1:p.Phe215Leu
ENST00000648599.1:c.643T>C	ENSP00000497159.1:p.Phe215Leu
ENST00000648630.1:c.637T>C	ENSP00000497887.1:p.Phe213Leu
ENST00000648682.1:c.643T>C	ENSP00000498185.1:p.Phe215Leu
ENST00000648882.1:c.*469T>C	ENSP00000497603.1:n.*469T>C
ENST00000648890.1:c.643T>C	ENSP00000497503.1:p.Phe215Leu
ENST00000648915.2:c.643T>C MANE Select	ENSP00000497160.1:p.Phe215Leu
ENST00000649545.1:c.377T>C
ENST00000649688.1:c.643T>C	ENSP00000497097.1:p.Phe215Leu
ENST00000649814.1:n.692T>C
ENST00000650270.1:c.510T>C
ENST00000273783.7:c.643T>C	ENSP00000273783.3:p.Phe215Leu
ENST00000432982.5:c.245+1359T>C
ENST00000444495.1:c.643T>C	ENSP00000409142.1:p.Phe215Leu
ENST00000468748.5:n.96T>C
ENST00000481054.5:n.644T>C
ENST00000491008.5:n.607T>C
ENST00000491144.5:n.1083T>C
NM_003907.2:c.643T>C	NP_003898.2:p.Phe215Leu
XR_924208.1:n.1594T>C
NM_003907.3:c.643T>C MANE Select	NP_003898.2:p.Phe215Leu
XM_011513266.3:c.-259T>C	XP_011511568.1:n.-259T>C
XR_001740352.2:n.1006T>C
XR_001740353.2:n.1006T>C
XR_924208.2:n.1006T>C