Canonical Allele Identifier: CA355382402

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1713444901
• MyVariant Identifiers: chr3:g.183855819C>G (hg19) ; chr3:g.184138031C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138031C>G , CM000665.2:g.184138031C>G	GRCh38
NC_000003.11:g.183855819C>G , CM000665.1:g.183855819C>G	GRCh37
NC_000003.10:g.185338513C>G	NCBI36
NG_015826.1:g.8010C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.663C>G
ENST00000468748.7:n.623C>G
ENST00000484154.2:n.1261C>G
ENST00000491008.6:n.1388C>G
ENST00000492226.2:n.637C>G
ENST00000492773.6:c.372C>G
ENST00000647636.1:c.640C>G	ENSP00000497505.1:p.His214Asp
ENST00000647909.1:c.664C>G	ENSP00000498164.1:p.His222Asp
ENST00000648145.1:c.408C>G
ENST00000648189.1:c.390C>G
ENST00000648256.1:c.589C>G	ENSP00000497356.1:p.His197Asp
ENST00000648314.1:c.640C>G	ENSP00000496920.1:p.His214Asp
ENST00000648599.1:c.640C>G	ENSP00000497159.1:p.His214Asp
ENST00000648630.1:c.634C>G	ENSP00000497887.1:p.His212Asp
ENST00000648682.1:c.640C>G	ENSP00000498185.1:p.His214Asp
ENST00000648882.1:c.*466C>G	ENSP00000497603.1:n.*466C>G
ENST00000648890.1:c.640C>G	ENSP00000497503.1:p.His214Asp
ENST00000648915.2:c.640C>G MANE Select	ENSP00000497160.1:p.His214Asp
ENST00000649545.1:c.374C>G
ENST00000649688.1:c.640C>G	ENSP00000497097.1:p.His214Asp
ENST00000649814.1:n.689C>G
ENST00000650270.1:c.507C>G
ENST00000273783.7:c.640C>G	ENSP00000273783.3:p.His214Asp
ENST00000432982.5:c.245+1356C>G
ENST00000444495.1:c.640C>G	ENSP00000409142.1:p.His214Asp
ENST00000468748.5:n.93C>G
ENST00000481054.5:n.641C>G
ENST00000491008.5:n.604C>G
ENST00000491144.5:n.1080C>G
ENST00000498831.1:n.595C>G
NM_003907.2:c.640C>G	NP_003898.2:p.His214Asp
XR_924208.1:n.1591C>G
NM_003907.3:c.640C>G MANE Select	NP_003898.2:p.His214Asp
XM_011513266.3:c.-262C>G	XP_011511568.1:n.-262C>G
XR_001740352.2:n.1003C>G
XR_001740353.2:n.1003C>G
XR_924208.2:n.1003C>G