Canonical Allele Identifier: CA355385018

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183858277G>C (hg19) ; chr3:g.184140489G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140489G>C , CM000665.2:g.184140489G>C	GRCh38
NC_000003.11:g.183858277G>C , CM000665.1:g.183858277G>C	GRCh37
NC_000003.10:g.185340971G>C	NCBI36
NG_015826.1:g.10468G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.938G>C
ENST00000468748.7:n.1158G>C
ENST00000484154.2:n.1387-1436G>C
ENST00000491008.6:n.1663G>C
ENST00000492226.2:n.1172G>C
ENST00000492773.6:c.669G>C
ENST00000647636.1:c.915G>C	ENSP00000497505.1:p.Met305Ile
ENST00000647909.1:c.939G>C	ENSP00000498164.1:p.Met313Ile
ENST00000648145.1:c.683G>C
ENST00000648189.1:c.729G>C
ENST00000648256.1:c.887G>C	ENSP00000497356.1:n.887G>C
ENST00000648314.1:c.*34G>C	ENSP00000496920.1:n.*34G>C
ENST00000648599.1:c.*198G>C	ENSP00000497159.1:n.*198G>C
ENST00000648630.1:c.909G>C	ENSP00000497887.1:p.Met303Ile
ENST00000648682.1:c.915G>C	ENSP00000498185.1:p.Met305Ile
ENST00000648882.1:c.*741G>C	ENSP00000497603.1:n.*741G>C
ENST00000648890.1:c.915G>C	ENSP00000497503.1:p.Met305Ile
ENST00000648915.2:c.915G>C MANE Select	ENSP00000497160.1:p.Met305Ile
ENST00000649545.1:c.577+332G>C
ENST00000649688.1:c.*198G>C	ENSP00000497097.1:n.*198G>C
ENST00000649814.1:n.964G>C
ENST00000650270.1:c.782G>C
ENST00000273783.7:c.915G>C	ENSP00000273783.3:p.Met305Ile
ENST00000432982.5:c.246-1748G>C
ENST00000444495.1:c.915G>C	ENSP00000409142.1:p.Met305Ile
ENST00000468748.5:n.628G>C
ENST00000479833.1:n.231G>C
ENST00000481054.5:n.1009G>C
ENST00000491144.5:n.1419G>C
ENST00000493740.1:n.145G>C
NM_003907.2:c.915G>C	NP_003898.2:p.Met305Ile
XM_011513265.1:c.165G>C	XP_011511567.1:p.Met55Ile
XM_011513266.1:c.78G>C	XP_011511568.1:p.Met26Ile
XR_924208.1:n.1866G>C
NM_003907.3:c.915G>C MANE Select	NP_003898.2:p.Met305Ile
XM_011513266.3:c.78G>C	XP_011511568.1:p.Met26Ile
XR_001740352.2:n.1278G>C
XR_001740353.2:n.1278G>C
XR_924208.2:n.1278G>C