Canonical Allele Identifier: CA355385255

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183858309G>T (hg19) ; chr3:g.184140521G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140521G>T , CM000665.2:g.184140521G>T	GRCh38
NC_000003.11:g.183858309G>T , CM000665.1:g.183858309G>T	GRCh37
NC_000003.10:g.185341003G>T	NCBI36
NG_015826.1:g.10500G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.970G>T
ENST00000468748.7:n.1190G>T
ENST00000484154.2:n.1387-1404G>T
ENST00000491008.6:n.1695G>T
ENST00000492226.2:n.1204G>T
ENST00000492773.6:c.701G>T
ENST00000647636.1:c.947G>T	ENSP00000497505.1:p.Arg316Leu
ENST00000647909.1:c.971G>T	ENSP00000498164.1:p.Arg324Leu
ENST00000648145.1:c.715G>T
ENST00000648189.1:c.761G>T
ENST00000648256.1:c.919G>T	ENSP00000497356.1:n.919G>T
ENST00000648314.1:c.*66G>T	ENSP00000496920.1:n.*66G>T
ENST00000648599.1:c.*230G>T	ENSP00000497159.1:n.*230G>T
ENST00000648630.1:c.941G>T	ENSP00000497887.1:p.Arg314Leu
ENST00000648682.1:c.947G>T	ENSP00000498185.1:p.Arg316Leu
ENST00000648882.1:c.*773G>T	ENSP00000497603.1:n.*773G>T
ENST00000648890.1:c.947G>T	ENSP00000497503.1:p.Arg316Leu
ENST00000648915.2:c.947G>T MANE Select	ENSP00000497160.1:p.Arg316Leu
ENST00000649545.1:c.577+364G>T
ENST00000649688.1:c.*230G>T	ENSP00000497097.1:n.*230G>T
ENST00000649814.1:n.996G>T
ENST00000650270.1:c.814G>T
ENST00000273783.7:c.947G>T	ENSP00000273783.3:p.Arg316Leu
ENST00000432982.5:c.246-1716G>T
ENST00000444495.1:c.947G>T	ENSP00000409142.1:p.Arg316Leu
ENST00000468748.5:n.660G>T
ENST00000479833.1:n.263G>T
ENST00000481054.5:n.1041G>T
ENST00000491144.5:n.1451G>T
ENST00000493740.1:n.177G>T
NM_003907.2:c.947G>T	NP_003898.2:p.Arg316Leu
XM_011513265.1:c.197G>T	XP_011511567.1:p.Arg66Leu
XM_011513266.1:c.110G>T	XP_011511568.1:p.Arg37Leu
XR_924208.1:n.1898G>T
NM_003907.3:c.947G>T MANE Select	NP_003898.2:p.Arg316Leu
XM_011513266.3:c.110G>T	XP_011511568.1:p.Arg37Leu
XR_001740352.2:n.1310G>T
XR_001740353.2:n.1310G>T
XR_924208.2:n.1310G>T