Canonical Allele Identifier: CA355381840

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855467T>G (hg19) ; chr3:g.184137679T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137679T>G , CM000665.2:g.184137679T>G	GRCh38
NC_000003.11:g.183855467T>G , CM000665.1:g.183855467T>G	GRCh37
NC_000003.10:g.185338161T>G	NCBI36
NG_015826.1:g.7658T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.403T>G
ENST00000468748.7:n.363T>G
ENST00000484154.2:n.1001T>G
ENST00000491008.6:n.1128T>G
ENST00000492226.2:n.377T>G
ENST00000492773.6:c.112T>G
ENST00000647636.1:c.380T>G	ENSP00000497505.1:p.Leu127Arg
ENST00000647909.1:c.380T>G	ENSP00000498164.1:p.Leu127Arg
ENST00000648145.1:c.148T>G
ENST00000648189.1:c.130T>G
ENST00000648256.1:c.329T>G	ENSP00000497356.1:p.Leu110Arg
ENST00000648314.1:c.380T>G	ENSP00000496920.1:p.Leu127Arg
ENST00000648599.1:c.380T>G	ENSP00000497159.1:p.Leu127Arg
ENST00000648630.1:c.374T>G	ENSP00000497887.1:p.Leu125Arg
ENST00000648682.1:c.380T>G	ENSP00000498185.1:p.Leu127Arg
ENST00000648882.1:c.*206T>G	ENSP00000497603.1:n.*206T>G
ENST00000648890.1:c.380T>G	ENSP00000497503.1:p.Leu127Arg
ENST00000648915.2:c.380T>G MANE Select	ENSP00000497160.1:p.Leu127Arg
ENST00000649545.1:c.114T>G
ENST00000649688.1:c.380T>G	ENSP00000497097.1:p.Leu127Arg
ENST00000649814.1:n.429T>G
ENST00000650244.1:c.525T>G	ENSP00000497227.1:n.525T>G
ENST00000650270.1:c.247T>G
ENST00000273783.7:c.380T>G	ENSP00000273783.3:p.Leu127Arg
ENST00000432982.5:c.245+1004T>G
ENST00000444495.1:c.380T>G	ENSP00000409142.1:p.Leu127Arg
ENST00000481054.5:n.381T>G
ENST00000491008.5:n.344T>G
ENST00000491144.5:n.728T>G
ENST00000498831.1:n.335T>G
NM_003907.2:c.380T>G	NP_003898.2:p.Leu127Arg
XR_924208.1:n.1331T>G
NM_003907.3:c.380T>G MANE Select	NP_003898.2:p.Leu127Arg
XM_011513266.3:c.-522T>G	XP_011511568.1:n.-522T>G
XR_001740352.2:n.743T>G
XR_001740353.2:n.743T>G
XR_924208.2:n.743T>G