Canonical Allele Identifier: CA355385215

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1577032491
• MyVariant Identifiers: chr3:g.183858303T>C (hg19) ; chr3:g.184140515T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140515T>C , CM000665.2:g.184140515T>C	GRCh38
NC_000003.11:g.183858303T>C , CM000665.1:g.183858303T>C	GRCh37
NC_000003.10:g.185340997T>C	NCBI36
NG_015826.1:g.10494T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.964T>C
ENST00000468748.7:n.1184T>C
ENST00000484154.2:n.1387-1410T>C
ENST00000491008.6:n.1689T>C
ENST00000492226.2:n.1198T>C
ENST00000492773.6:c.695T>C
ENST00000647636.1:c.941T>C	ENSP00000497505.1:p.Ile314Thr
ENST00000647909.1:c.965T>C	ENSP00000498164.1:p.Ile322Thr
ENST00000648145.1:c.709T>C
ENST00000648189.1:c.755T>C
ENST00000648256.1:c.913T>C	ENSP00000497356.1:n.913T>C
ENST00000648314.1:c.*60T>C	ENSP00000496920.1:n.*60T>C
ENST00000648599.1:c.*224T>C	ENSP00000497159.1:n.*224T>C
ENST00000648630.1:c.935T>C	ENSP00000497887.1:p.Ile312Thr
ENST00000648682.1:c.941T>C	ENSP00000498185.1:p.Ile314Thr
ENST00000648882.1:c.*767T>C	ENSP00000497603.1:n.*767T>C
ENST00000648890.1:c.941T>C	ENSP00000497503.1:p.Ile314Thr
ENST00000648915.2:c.941T>C MANE Select	ENSP00000497160.1:p.Ile314Thr
ENST00000649545.1:c.577+358T>C
ENST00000649688.1:c.*224T>C	ENSP00000497097.1:n.*224T>C
ENST00000649814.1:n.990T>C
ENST00000650270.1:c.808T>C
ENST00000273783.7:c.941T>C	ENSP00000273783.3:p.Ile314Thr
ENST00000432982.5:c.246-1722T>C
ENST00000444495.1:c.941T>C	ENSP00000409142.1:p.Ile314Thr
ENST00000468748.5:n.654T>C
ENST00000479833.1:n.257T>C
ENST00000481054.5:n.1035T>C
ENST00000491144.5:n.1445T>C
ENST00000493740.1:n.171T>C
NM_003907.2:c.941T>C	NP_003898.2:p.Ile314Thr
XM_011513265.1:c.191T>C	XP_011511567.1:p.Ile64Thr
XM_011513266.1:c.104T>C	XP_011511568.1:p.Ile35Thr
XR_924208.1:n.1892T>C
NM_003907.3:c.941T>C MANE Select	NP_003898.2:p.Ile314Thr
XM_011513266.3:c.104T>C	XP_011511568.1:p.Ile35Thr
XR_001740352.2:n.1304T>C
XR_001740353.2:n.1304T>C
XR_924208.2:n.1304T>C