Canonical Allele Identifier: CA2726460

Gene: EIF2B5

Linked Data

• dbSNP Id: rs770857433
• ExAC: 3:183855960 T / C
• gnomAD v2: 3-183855960-T-C
• gnomAD v4: 3-184138172-T-C
• MyVariant Identifiers: chr3:g.183855960T>C (hg19) ; chr3:g.184138172T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138172T>C , CM000665.2:g.184138172T>C	GRCh38
NC_000003.11:g.183855960T>C , CM000665.1:g.183855960T>C	GRCh37
NC_000003.10:g.185338654T>C	NCBI36
NG_015826.1:g.8151T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.714T>C
ENST00000468748.7:n.674T>C
ENST00000484154.2:n.1312T>C
ENST00000491008.6:n.1439T>C
ENST00000492226.2:n.688T>C
ENST00000492773.6:c.445T>C
ENST00000647636.1:c.691T>C	ENSP00000497505.1:p.Phe231Leu
ENST00000647909.1:c.715T>C	ENSP00000498164.1:p.Phe239Leu
ENST00000648145.1:c.459T>C
ENST00000648189.1:c.441T>C
ENST00000648256.1:c.640T>C	ENSP00000497356.1:p.Phe214Leu
ENST00000648314.1:c.691T>C	ENSP00000496920.1:p.Phe231Leu
ENST00000648599.1:c.691T>C	ENSP00000497159.1:p.Phe231Leu
ENST00000648630.1:c.685T>C	ENSP00000497887.1:p.Phe229Leu
ENST00000648682.1:c.691T>C	ENSP00000498185.1:p.Phe231Leu
ENST00000648882.1:c.*517T>C	ENSP00000497603.1:n.*517T>C
ENST00000648890.1:c.691T>C	ENSP00000497503.1:p.Phe231Leu
ENST00000648915.2:c.691T>C MANE Select	ENSP00000497160.1:p.Phe231Leu
ENST00000649545.1:c.425T>C
ENST00000649688.1:c.691T>C	ENSP00000497097.1:p.Phe231Leu
ENST00000649814.1:n.740T>C
ENST00000650270.1:c.558T>C
ENST00000273783.7:c.691T>C	ENSP00000273783.3:p.Phe231Leu
ENST00000432982.5:c.245+1497T>C
ENST00000444495.1:c.691T>C	ENSP00000409142.1:p.Phe231Leu
ENST00000468748.5:n.144T>C
ENST00000479833.1:n.7T>C
ENST00000481054.5:n.692T>C
ENST00000491008.5:n.655T>C
ENST00000491144.5:n.1131T>C
NM_003907.2:c.691T>C	NP_003898.2:p.Phe231Leu
XR_924208.1:n.1642T>C
NM_003907.3:c.691T>C MANE Select	NP_003898.2:p.Phe231Leu
XM_011513266.3:c.-211T>C	XP_011511568.1:n.-211T>C
XR_001740352.2:n.1054T>C
XR_001740353.2:n.1054T>C
XR_924208.2:n.1054T>C