Canonical Allele Identifier: CA355383437

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183857902A>T (hg19) ; chr3:g.184140114A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140114A>T , CM000665.2:g.184140114A>T	GRCh38
NC_000003.11:g.183857902A>T , CM000665.1:g.183857902A>T	GRCh37
NC_000003.10:g.185340596A>T	NCBI36
NG_015826.1:g.10093A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.823A>T
ENST00000468748.7:n.783A>T
ENST00000484154.2:n.1387-1811A>T
ENST00000491008.6:n.1548A>T
ENST00000492226.2:n.797A>T
ENST00000492773.6:c.554A>T
ENST00000647636.1:c.800A>T	ENSP00000497505.1:p.Gln267Leu
ENST00000647909.1:c.824A>T	ENSP00000498164.1:p.Gln275Leu
ENST00000648145.1:c.568A>T
ENST00000648189.1:c.550A>T
ENST00000648256.1:c.772A>T	ENSP00000497356.1:p.Lys258Ter
ENST00000648314.1:c.800A>T	ENSP00000496920.1:p.Gln267Leu
ENST00000648599.1:c.*83A>T	ENSP00000497159.1:n.*83A>T
ENST00000648630.1:c.794A>T	ENSP00000497887.1:p.Gln265Leu
ENST00000648682.1:c.800A>T	ENSP00000498185.1:p.Gln267Leu
ENST00000648882.1:c.*626A>T	ENSP00000497603.1:n.*626A>T
ENST00000648890.1:c.800A>T	ENSP00000497503.1:p.Gln267Leu
ENST00000648915.2:c.800A>T MANE Select	ENSP00000497160.1:p.Gln267Leu
ENST00000649545.1:c.534A>T
ENST00000649688.1:c.*83A>T	ENSP00000497097.1:n.*83A>T
ENST00000649814.1:n.849A>T
ENST00000650270.1:c.667A>T
ENST00000273783.7:c.800A>T	ENSP00000273783.3:p.Gln267Leu
ENST00000432982.5:c.246-2123A>T
ENST00000444495.1:c.800A>T	ENSP00000409142.1:p.Gln267Leu
ENST00000468748.5:n.253A>T
ENST00000479833.1:n.116A>T
ENST00000481054.5:n.894A>T
ENST00000491008.5:n.764A>T
ENST00000491144.5:n.1240A>T
NM_003907.2:c.800A>T	NP_003898.2:p.Gln267Leu
XM_011513265.1:c.50A>T	XP_011511567.1:p.Gln17Leu
XR_924208.1:n.1751A>T
NM_003907.3:c.800A>T MANE Select	NP_003898.2:p.Gln267Leu
XM_011513266.3:c.-102A>T	XP_011511568.1:n.-102A>T
XR_001740352.2:n.1163A>T
XR_001740353.2:n.1163A>T
XR_924208.2:n.1163A>T