Canonical Allele Identifier: CA437323491

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855701A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137913A>C , CM000665.2:g.184137913A>C	GRCh38
NC_000003.11:g.183855701A>C , CM000665.1:g.183855701A>C	GRCh37
NC_000003.10:g.185338395A>C	NCBI36
NG_015826.1:g.7892A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.545A>C
ENST00000468748.7:n.505A>C
ENST00000484154.2:n.1143A>C
ENST00000491008.6:n.1270A>C
ENST00000492226.2:n.519A>C
ENST00000492773.6:c.254A>C
ENST00000647636.1:c.522A>C	ENSP00000497505.1:p.Leu174=
ENST00000647909.1:c.546A>C	ENSP00000498164.1:p.Leu182=
ENST00000648145.1:c.290A>C
ENST00000648189.1:c.272A>C
ENST00000648256.1:c.471A>C	ENSP00000497356.1:p.Leu157=
ENST00000648314.1:c.522A>C	ENSP00000496920.1:p.Leu174=
ENST00000648599.1:c.522A>C	ENSP00000497159.1:p.Leu174=
ENST00000648630.1:c.516A>C	ENSP00000497887.1:p.Leu172=
ENST00000648682.1:c.522A>C	ENSP00000498185.1:p.Leu174=
ENST00000648882.1:c.*348A>C	ENSP00000497603.1:n.*348A>C
ENST00000648890.1:c.522A>C	ENSP00000497503.1:p.Leu174=
ENST00000648915.2:c.522A>C MANE Select	ENSP00000497160.1:p.Leu174=
ENST00000649545.1:c.256A>C
ENST00000649688.1:c.522A>C	ENSP00000497097.1:p.Leu174=
ENST00000649814.1:n.571A>C
ENST00000650244.1:c.667A>C	ENSP00000497227.1:n.667A>C
ENST00000650270.1:c.389A>C
ENST00000273783.7:c.522A>C	ENSP00000273783.3:p.Leu174=
ENST00000432982.5:c.245+1238A>C
ENST00000444495.1:c.522A>C	ENSP00000409142.1:p.Leu174=
ENST00000481054.5:n.523A>C
ENST00000491008.5:n.486A>C
ENST00000491144.5:n.962A>C
ENST00000498831.1:n.477A>C
NM_003907.2:c.522A>C	NP_003898.2:p.Leu174=
XR_924208.1:n.1473A>C
NM_003907.3:c.522A>C MANE Select	NP_003898.2:p.Leu174=
XM_011513266.3:c.-380A>C	XP_011511568.1:n.-380A>C
XR_001740352.2:n.885A>C
XR_001740353.2:n.885A>C
XR_924208.2:n.885A>C