Canonical Allele Identifier: CA355383013

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184138213-A-C
• MyVariant Identifiers: chr3:g.183856001A>C (hg19) ; chr3:g.184138213A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138213A>C , CM000665.2:g.184138213A>C	GRCh38
NC_000003.11:g.183856001A>C , CM000665.1:g.183856001A>C	GRCh37
NC_000003.10:g.185338695A>C	NCBI36
NG_015826.1:g.8192A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.755A>C
ENST00000468748.7:n.715A>C
ENST00000484154.2:n.1353A>C
ENST00000491008.6:n.1480A>C
ENST00000492226.2:n.729A>C
ENST00000492773.6:c.486A>C
ENST00000647636.1:c.732A>C	ENSP00000497505.1:p.Leu244Phe
ENST00000647909.1:c.756A>C	ENSP00000498164.1:p.Leu252Phe
ENST00000648145.1:c.500A>C
ENST00000648189.1:c.482A>C
ENST00000648256.1:c.681A>C	ENSP00000497356.1:p.Leu227Phe
ENST00000648314.1:c.732A>C	ENSP00000496920.1:p.Leu244Phe
ENST00000648599.1:c.732A>C	ENSP00000497159.1:p.Leu244Phe
ENST00000648630.1:c.726A>C	ENSP00000497887.1:p.Leu242Phe
ENST00000648682.1:c.732A>C	ENSP00000498185.1:p.Leu244Phe
ENST00000648882.1:c.*558A>C	ENSP00000497603.1:n.*558A>C
ENST00000648890.1:c.732A>C	ENSP00000497503.1:p.Leu244Phe
ENST00000648915.2:c.732A>C MANE Select	ENSP00000497160.1:p.Leu244Phe
ENST00000649545.1:c.466A>C
ENST00000649688.1:c.732A>C	ENSP00000497097.1:p.Leu244Phe
ENST00000649814.1:n.781A>C
ENST00000650270.1:c.599A>C
ENST00000273783.7:c.732A>C	ENSP00000273783.3:p.Leu244Phe
ENST00000432982.5:c.245+1538A>C
ENST00000444495.1:c.732A>C	ENSP00000409142.1:p.Leu244Phe
ENST00000468748.5:n.185A>C
ENST00000479833.1:n.48A>C
ENST00000481054.5:n.733A>C
ENST00000491008.5:n.696A>C
ENST00000491144.5:n.1172A>C
NM_003907.2:c.732A>C	NP_003898.2:p.Leu244Phe
XR_924208.1:n.1683A>C
NM_003907.3:c.732A>C MANE Select	NP_003898.2:p.Leu244Phe
XM_011513266.3:c.-170A>C	XP_011511568.1:n.-170A>C
XR_001740352.2:n.1095A>C
XR_001740353.2:n.1095A>C
XR_924208.2:n.1095A>C