Canonical Allele Identifier: CA355384589

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183858213G>C (hg19) ; chr3:g.184140425G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140425G>C , CM000665.2:g.184140425G>C	GRCh38
NC_000003.11:g.183858213G>C , CM000665.1:g.183858213G>C	GRCh37
NC_000003.10:g.185340907G>C	NCBI36
NG_015826.1:g.10404G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.874G>C
ENST00000468748.7:n.1094G>C
ENST00000484154.2:n.1387-1500G>C
ENST00000491008.6:n.1599G>C
ENST00000492226.2:n.1108G>C
ENST00000492773.6:c.605G>C
ENST00000647636.1:c.851G>C	ENSP00000497505.1:p.Gly284Ala
ENST00000647909.1:c.875G>C	ENSP00000498164.1:p.Gly292Ala
ENST00000648145.1:c.619G>C
ENST00000648189.1:c.665G>C
ENST00000648256.1:c.823G>C	ENSP00000497356.1:n.823G>C
ENST00000648314.1:c.915G>C	ENSP00000496920.1:p.Arg305Ser
ENST00000648599.1:c.*134G>C	ENSP00000497159.1:n.*134G>C
ENST00000648630.1:c.845G>C	ENSP00000497887.1:p.Gly282Ala
ENST00000648682.1:c.851G>C	ENSP00000498185.1:p.Gly284Ala
ENST00000648882.1:c.*677G>C	ENSP00000497603.1:n.*677G>C
ENST00000648890.1:c.851G>C	ENSP00000497503.1:p.Gly284Ala
ENST00000648915.2:c.851G>C MANE Select	ENSP00000497160.1:p.Gly284Ala
ENST00000649545.1:c.577+268G>C
ENST00000649688.1:c.*134G>C	ENSP00000497097.1:n.*134G>C
ENST00000649814.1:n.900G>C
ENST00000650270.1:c.718G>C
ENST00000273783.7:c.851G>C	ENSP00000273783.3:p.Gly284Ala
ENST00000432982.5:c.246-1812G>C
ENST00000444495.1:c.851G>C	ENSP00000409142.1:p.Gly284Ala
ENST00000468748.5:n.564G>C
ENST00000479833.1:n.167G>C
ENST00000481054.5:n.945G>C
ENST00000491144.5:n.1355G>C
ENST00000493740.1:n.81G>C
NM_003907.2:c.851G>C	NP_003898.2:p.Gly284Ala
XM_011513265.1:c.101G>C	XP_011511567.1:p.Gly34Ala
XM_011513266.1:c.14G>C	XP_011511568.1:p.Gly5Ala
XR_924208.1:n.1802G>C
NM_003907.3:c.851G>C MANE Select	NP_003898.2:p.Gly284Ala
XM_011513266.3:c.14G>C	XP_011511568.1:p.Gly5Ala
XR_001740352.2:n.1214G>C
XR_001740353.2:n.1214G>C
XR_924208.2:n.1214G>C