Canonical Allele Identifier: CA355382292

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855766G>C (hg19) ; chr3:g.184137978G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137978G>C , CM000665.2:g.184137978G>C	GRCh38
NC_000003.11:g.183855766G>C , CM000665.1:g.183855766G>C	GRCh37
NC_000003.10:g.185338460G>C	NCBI36
NG_015826.1:g.7957G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.610G>C
ENST00000468748.7:n.570G>C
ENST00000484154.2:n.1208G>C
ENST00000491008.6:n.1335G>C
ENST00000492226.2:n.584G>C
ENST00000492773.6:c.319G>C
ENST00000647636.1:c.587G>C	ENSP00000497505.1:p.Cys196Ser
ENST00000647909.1:c.611G>C	ENSP00000498164.1:p.Cys204Ser
ENST00000648145.1:c.355G>C
ENST00000648189.1:c.337G>C
ENST00000648256.1:c.536G>C	ENSP00000497356.1:p.Cys179Ser
ENST00000648314.1:c.587G>C	ENSP00000496920.1:p.Cys196Ser
ENST00000648599.1:c.587G>C	ENSP00000497159.1:p.Cys196Ser
ENST00000648630.1:c.581G>C	ENSP00000497887.1:p.Cys194Ser
ENST00000648682.1:c.587G>C	ENSP00000498185.1:p.Cys196Ser
ENST00000648882.1:c.*413G>C	ENSP00000497603.1:n.*413G>C
ENST00000648890.1:c.587G>C	ENSP00000497503.1:p.Cys196Ser
ENST00000648915.2:c.587G>C MANE Select	ENSP00000497160.1:p.Cys196Ser
ENST00000649545.1:c.321G>C
ENST00000649688.1:c.587G>C	ENSP00000497097.1:p.Cys196Ser
ENST00000649814.1:n.636G>C
ENST00000650270.1:c.454G>C
ENST00000273783.7:c.587G>C	ENSP00000273783.3:p.Cys196Ser
ENST00000432982.5:c.245+1303G>C
ENST00000444495.1:c.587G>C	ENSP00000409142.1:p.Cys196Ser
ENST00000468748.5:n.40G>C
ENST00000481054.5:n.588G>C
ENST00000491008.5:n.551G>C
ENST00000491144.5:n.1027G>C
ENST00000498831.1:n.542G>C
NM_003907.2:c.587G>C	NP_003898.2:p.Cys196Ser
XR_924208.1:n.1538G>C
NM_003907.3:c.587G>C MANE Select	NP_003898.2:p.Cys196Ser
XM_011513266.3:c.-315G>C	XP_011511568.1:n.-315G>C
XR_001740352.2:n.950G>C
XR_001740353.2:n.950G>C
XR_924208.2:n.950G>C