Canonical Allele Identifier: CA355385279

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183858312G>T (hg19) ; chr3:g.184140524G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140524G>T , CM000665.2:g.184140524G>T	GRCh38
NC_000003.11:g.183858312G>T , CM000665.1:g.183858312G>T	GRCh37
NC_000003.10:g.185341006G>T	NCBI36
NG_015826.1:g.10503G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.973G>T
ENST00000468748.7:n.1193G>T
ENST00000484154.2:n.1387-1401G>T
ENST00000491008.6:n.1698G>T
ENST00000492226.2:n.1207G>T
ENST00000492773.6:c.704G>T
ENST00000647636.1:c.950G>T	ENSP00000497505.1:p.Trp317Leu
ENST00000647909.1:c.974G>T	ENSP00000498164.1:p.Trp325Leu
ENST00000648145.1:c.718G>T
ENST00000648189.1:c.764G>T
ENST00000648256.1:c.922G>T	ENSP00000497356.1:n.922G>T
ENST00000648314.1:c.*69G>T	ENSP00000496920.1:n.*69G>T
ENST00000648599.1:c.*233G>T	ENSP00000497159.1:n.*233G>T
ENST00000648630.1:c.944G>T	ENSP00000497887.1:p.Trp315Leu
ENST00000648682.1:c.950G>T	ENSP00000498185.1:p.Trp317Leu
ENST00000648882.1:c.*776G>T	ENSP00000497603.1:n.*776G>T
ENST00000648890.1:c.950G>T	ENSP00000497503.1:p.Trp317Leu
ENST00000648915.2:c.950G>T MANE Select	ENSP00000497160.1:p.Trp317Leu
ENST00000649545.1:c.577+367G>T
ENST00000649688.1:c.*233G>T	ENSP00000497097.1:n.*233G>T
ENST00000649814.1:n.999G>T
ENST00000650270.1:c.817G>T
ENST00000273783.7:c.950G>T	ENSP00000273783.3:p.Trp317Leu
ENST00000432982.5:c.246-1713G>T
ENST00000444495.1:c.950G>T	ENSP00000409142.1:p.Trp317Leu
ENST00000468748.5:n.663G>T
ENST00000479833.1:n.266G>T
ENST00000481054.5:n.1044G>T
ENST00000491144.5:n.1454G>T
ENST00000493740.1:n.180G>T
NM_003907.2:c.950G>T	NP_003898.2:p.Trp317Leu
XM_011513265.1:c.200G>T	XP_011511567.1:p.Trp67Leu
XM_011513266.1:c.113G>T	XP_011511568.1:p.Trp38Leu
XR_924208.1:n.1901G>T
NM_003907.3:c.950G>T MANE Select	NP_003898.2:p.Trp317Leu
XM_011513266.3:c.113G>T	XP_011511568.1:p.Trp38Leu
XR_001740352.2:n.1313G>T
XR_001740353.2:n.1313G>T
XR_924208.2:n.1313G>T