Canonical Allele Identifier: CA903705793

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1195066527
• gnomAD v3: 3-184137847-C-T
• gnomAD v4: 3-184137847-C-T
• MyVariant Identifiers: chr3:g.183855635C>T (hg19) ; chr3:g.184137847C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137847C>T , CM000665.2:g.184137847C>T	GRCh38
NC_000003.11:g.183855635C>T , CM000665.1:g.183855635C>T	GRCh37
NC_000003.10:g.185338329C>T	NCBI36
NG_015826.1:g.7826C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.529+42C>T
ENST00000468748.7:n.489+42C>T
ENST00000484154.2:n.1127+42C>T
ENST00000491008.6:n.1254+42C>T
ENST00000492226.2:n.503+42C>T
ENST00000492773.6:c.238+42C>T
ENST00000647636.1:c.506+42C>T	ENSP00000497505.1:n.506+42C>T
ENST00000647909.1:c.507-27C>T	ENSP00000498164.1:n.507-27C>T
ENST00000648145.1:c.274+42C>T
ENST00000648189.1:c.256+42C>T
ENST00000648256.1:c.455+42C>T	ENSP00000497356.1:n.455+42C>T
ENST00000648314.1:c.506+42C>T	ENSP00000496920.1:n.506+42C>T
ENST00000648599.1:c.506+42C>T	ENSP00000497159.1:n.506+42C>T
ENST00000648630.1:c.500+42C>T	ENSP00000497887.1:n.500+42C>T
ENST00000648682.1:c.506+42C>T	ENSP00000498185.1:n.506+42C>T
ENST00000648882.1:c.*332+42C>T	ENSP00000497603.1:n.*332+42C>T
ENST00000648890.1:c.506+42C>T	ENSP00000497503.1:n.506+42C>T
ENST00000648915.2:c.506+42C>T MANE Select	ENSP00000497160.1:n.506+42C>T
ENST00000649545.1:c.240+42C>T
ENST00000649688.1:c.506+42C>T	ENSP00000497097.1:n.506+42C>T
ENST00000649814.1:n.555+42C>T
ENST00000650244.1:c.651+42C>T	ENSP00000497227.1:n.651+42C>T
ENST00000650270.1:c.373+42C>T
ENST00000273783.7:c.506+42C>T	ENSP00000273783.3:n.506+42C>T
ENST00000432982.5:c.245+1172C>T
ENST00000444495.1:c.506+42C>T	ENSP00000409142.1:n.506+42C>T
ENST00000481054.5:n.507+42C>T
ENST00000491008.5:n.470+42C>T
ENST00000491144.5:n.896C>T
ENST00000498831.1:n.461+42C>T
NM_003907.2:c.506+42C>T	NP_003898.2:n.506+42C>T
XR_924208.1:n.1457+42C>T
NM_003907.3:c.506+42C>T MANE Select	NP_003898.2:n.506+42C>T
XM_011513266.3:c.-396+42C>T	XP_011511568.1:n.-396+42C>T
XR_001740352.2:n.869+42C>T
XR_001740353.2:n.869+42C>T
XR_924208.2:n.869+42C>T