Canonical Allele Identifier: CA355384640

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183858221A>C (hg19) ; chr3:g.184140433A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140433A>C , CM000665.2:g.184140433A>C	GRCh38
NC_000003.11:g.183858221A>C , CM000665.1:g.183858221A>C	GRCh37
NC_000003.10:g.185340915A>C	NCBI36
NG_015826.1:g.10412A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.882A>C
ENST00000468748.7:n.1102A>C
ENST00000484154.2:n.1387-1492A>C
ENST00000491008.6:n.1607A>C
ENST00000492226.2:n.1116A>C
ENST00000492773.6:c.613A>C
ENST00000647636.1:c.859A>C	ENSP00000497505.1:p.Ile287Leu
ENST00000647909.1:c.883A>C	ENSP00000498164.1:p.Ile295Leu
ENST00000648145.1:c.627A>C
ENST00000648189.1:c.673A>C
ENST00000648256.1:c.831A>C	ENSP00000497356.1:n.831A>C
ENST00000648314.1:c.923A>C	ENSP00000496920.1:p.Asp308Ala
ENST00000648599.1:c.*142A>C	ENSP00000497159.1:n.*142A>C
ENST00000648630.1:c.853A>C	ENSP00000497887.1:p.Ile285Leu
ENST00000648682.1:c.859A>C	ENSP00000498185.1:p.Ile287Leu
ENST00000648882.1:c.*685A>C	ENSP00000497603.1:n.*685A>C
ENST00000648890.1:c.859A>C	ENSP00000497503.1:p.Ile287Leu
ENST00000648915.2:c.859A>C MANE Select	ENSP00000497160.1:p.Ile287Leu
ENST00000649545.1:c.577+276A>C
ENST00000649688.1:c.*142A>C	ENSP00000497097.1:n.*142A>C
ENST00000649814.1:n.908A>C
ENST00000650270.1:c.726A>C
ENST00000273783.7:c.859A>C	ENSP00000273783.3:p.Ile287Leu
ENST00000432982.5:c.246-1804A>C
ENST00000444495.1:c.859A>C	ENSP00000409142.1:p.Ile287Leu
ENST00000468748.5:n.572A>C
ENST00000479833.1:n.175A>C
ENST00000481054.5:n.953A>C
ENST00000491144.5:n.1363A>C
ENST00000493740.1:n.89A>C
NM_003907.2:c.859A>C	NP_003898.2:p.Ile287Leu
XM_011513265.1:c.109A>C	XP_011511567.1:p.Ile37Leu
XM_011513266.1:c.22A>C	XP_011511568.1:p.Ile8Leu
XR_924208.1:n.1810A>C
NM_003907.3:c.859A>C MANE Select	NP_003898.2:p.Ile287Leu
XM_011513266.3:c.22A>C	XP_011511568.1:p.Ile8Leu
XR_001740352.2:n.1222A>C
XR_001740353.2:n.1222A>C
XR_924208.2:n.1222A>C