Canonical Allele Identifier: CA355389545

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183860068T>C (hg19) ; chr3:g.184142280T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184142280T>C , CM000665.2:g.184142280T>C	GRCh38
NC_000003.11:g.183860068T>C , CM000665.1:g.183860068T>C	GRCh37
NC_000003.10:g.185342762T>C	NCBI36
NG_015826.1:g.12259T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1369T>C
ENST00000468748.7:n.1589T>C
ENST00000484154.2:n.1576T>C
ENST00000491008.6:n.2094T>C
ENST00000492226.2:n.1613T>C
ENST00000492773.6:c.1100T>C
ENST00000647636.1:c.*195T>C	ENSP00000497505.1:n.*195T>C
ENST00000647909.1:c.1370T>C	ENSP00000498164.1:p.Ile457Thr
ENST00000648145.1:c.1118T>C
ENST00000648189.1:c.1164T>C
ENST00000648256.1:c.1318T>C	ENSP00000497356.1:n.1318T>C
ENST00000648314.1:c.*465T>C	ENSP00000496920.1:n.*465T>C
ENST00000648599.1:c.*629T>C	ENSP00000497159.1:n.*629T>C
ENST00000648630.1:c.1225T>C	ENSP00000497887.1:n.1225T>C
ENST00000648682.1:c.*186T>C	ENSP00000498185.1:n.*186T>C
ENST00000648882.1:c.*1172T>C	ENSP00000497603.1:n.*1172T>C
ENST00000648890.1:c.1346T>C	ENSP00000497503.1:p.Ile449Thr
ENST00000648915.2:c.1346T>C MANE Select	ENSP00000497160.1:p.Ile449Thr
ENST00000649545.1:c.724-18T>C
ENST00000649688.1:c.*639T>C	ENSP00000497097.1:n.*639T>C
ENST00000649814.1:n.1395T>C
ENST00000650270.1:c.1213T>C
ENST00000273783.7:c.1346T>C	ENSP00000273783.3:p.Ile449Thr
ENST00000432982.5:c.289T>C
ENST00000444495.1:c.1346T>C	ENSP00000409142.1:p.Ile449Thr
ENST00000479250.1:n.173T>C
ENST00000481054.5:n.1440T>C
ENST00000491144.5:n.1850T>C
ENST00000492773.5:n.229T>C
NM_003907.2:c.1346T>C	NP_003898.2:p.Ile449Thr
XM_011513265.1:c.596T>C	XP_011511567.1:p.Ile199Thr
XM_011513266.1:c.509T>C	XP_011511568.1:p.Ile170Thr
XR_924208.1:n.2297T>C
NM_003907.3:c.1346T>C MANE Select	NP_003898.2:p.Ile449Thr
XM_011513266.3:c.509T>C	XP_011511568.1:p.Ile170Thr
XR_001740352.2:n.1709T>C
XR_001740353.2:n.1709T>C
XR_924208.2:n.1709T>C