Canonical Allele Identifier: CA2668796617

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184138093-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138093G>C , CM000665.2:g.184138093G>C	GRCh38
NC_000003.11:g.183855881G>C , CM000665.1:g.183855881G>C	GRCh37
NC_000003.10:g.185338575G>C	NCBI36
NG_015826.1:g.8072G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.707+18G>C
ENST00000468748.7:n.667+18G>C
ENST00000484154.2:n.1305+18G>C
ENST00000491008.6:n.1432+18G>C
ENST00000492226.2:n.681+18G>C
ENST00000492773.6:c.416+18G>C
ENST00000647636.1:c.684+18G>C	ENSP00000497505.1:n.684+18G>C
ENST00000647909.1:c.708+18G>C	ENSP00000498164.1:n.708+18G>C
ENST00000648145.1:c.452+18G>C
ENST00000648189.1:c.434+18G>C
ENST00000648256.1:c.633+18G>C	ENSP00000497356.1:n.633+18G>C
ENST00000648314.1:c.684+18G>C	ENSP00000496920.1:n.684+18G>C
ENST00000648599.1:c.684+18G>C	ENSP00000497159.1:n.684+18G>C
ENST00000648630.1:c.678+18G>C	ENSP00000497887.1:n.678+18G>C
ENST00000648682.1:c.684+18G>C	ENSP00000498185.1:n.684+18G>C
ENST00000648882.1:c.*510+18G>C	ENSP00000497603.1:n.*510+18G>C
ENST00000648890.1:c.684+18G>C	ENSP00000497503.1:n.684+18G>C
ENST00000648915.2:c.684+18G>C MANE Select	ENSP00000497160.1:n.684+18G>C
ENST00000649545.1:c.418+18G>C
ENST00000649688.1:c.684+18G>C	ENSP00000497097.1:n.684+18G>C
ENST00000649814.1:n.733+18G>C
ENST00000650270.1:c.551+18G>C
ENST00000273783.7:c.684+18G>C	ENSP00000273783.3:n.684+18G>C
ENST00000432982.5:c.245+1418G>C
ENST00000444495.1:c.684+18G>C	ENSP00000409142.1:n.684+18G>C
ENST00000468748.5:n.137+18G>C
ENST00000481054.5:n.685+18G>C
ENST00000491008.5:n.648+18G>C
ENST00000491144.5:n.1124+18G>C
NM_003907.2:c.684+18G>C	NP_003898.2:n.684+18G>C
XR_924208.1:n.1635+18G>C
NM_003907.3:c.684+18G>C MANE Select	NP_003898.2:n.684+18G>C
XM_011513266.3:c.-218+18G>C	XP_011511568.1:n.-218+18G>C
XR_001740352.2:n.1047+18G>C
XR_001740353.2:n.1047+18G>C
XR_924208.2:n.1047+18G>C