Canonical Allele Identifier: CA355383461

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183857911A>C (hg19) ; chr3:g.184140123A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140123A>C , CM000665.2:g.184140123A>C	GRCh38
NC_000003.11:g.183857911A>C , CM000665.1:g.183857911A>C	GRCh37
NC_000003.10:g.185340605A>C	NCBI36
NG_015826.1:g.10102A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.832A>C
ENST00000468748.7:n.792A>C
ENST00000484154.2:n.1387-1802A>C
ENST00000491008.6:n.1557A>C
ENST00000492226.2:n.806A>C
ENST00000492773.6:c.563A>C
ENST00000647636.1:c.809A>C	ENSP00000497505.1:p.Asp270Ala
ENST00000647909.1:c.833A>C	ENSP00000498164.1:p.Asp278Ala
ENST00000648145.1:c.577A>C
ENST00000648189.1:c.559A>C
ENST00000648256.1:c.781A>C	ENSP00000497356.1:p.Met261Leu
ENST00000648314.1:c.809A>C	ENSP00000496920.1:p.Asp270Ala
ENST00000648599.1:c.*92A>C	ENSP00000497159.1:n.*92A>C
ENST00000648630.1:c.803A>C	ENSP00000497887.1:p.Asp268Ala
ENST00000648682.1:c.809A>C	ENSP00000498185.1:p.Asp270Ala
ENST00000648882.1:c.*635A>C	ENSP00000497603.1:n.*635A>C
ENST00000648890.1:c.809A>C	ENSP00000497503.1:p.Asp270Ala
ENST00000648915.2:c.809A>C MANE Select	ENSP00000497160.1:p.Asp270Ala
ENST00000649545.1:c.543A>C
ENST00000649688.1:c.*92A>C	ENSP00000497097.1:n.*92A>C
ENST00000649814.1:n.858A>C
ENST00000650270.1:c.676A>C
ENST00000273783.7:c.809A>C	ENSP00000273783.3:p.Asp270Ala
ENST00000432982.5:c.246-2114A>C
ENST00000444495.1:c.809A>C	ENSP00000409142.1:p.Asp270Ala
ENST00000468748.5:n.262A>C
ENST00000479833.1:n.125A>C
ENST00000481054.5:n.903A>C
ENST00000491008.5:n.773A>C
ENST00000491144.5:n.1249A>C
NM_003907.2:c.809A>C	NP_003898.2:p.Asp270Ala
XM_011513265.1:c.59A>C	XP_011511567.1:p.Asp20Ala
XR_924208.1:n.1760A>C
NM_003907.3:c.809A>C MANE Select	NP_003898.2:p.Asp270Ala
XM_011513266.3:c.-93A>C	XP_011511568.1:n.-93A>C
XR_001740352.2:n.1172A>C
XR_001740353.2:n.1172A>C
XR_924208.2:n.1172A>C