Canonical Allele Identifier: CA355382850

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184138175-C-T
• MyVariant Identifiers: chr3:g.183855963C>T (hg19) ; chr3:g.184138175C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138175C>T , CM000665.2:g.184138175C>T	GRCh38
NC_000003.11:g.183855963C>T , CM000665.1:g.183855963C>T	GRCh37
NC_000003.10:g.185338657C>T	NCBI36
NG_015826.1:g.8154C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.717C>T
ENST00000468748.7:n.677C>T
ENST00000484154.2:n.1315C>T
ENST00000491008.6:n.1442C>T
ENST00000492226.2:n.691C>T
ENST00000492773.6:c.448C>T
ENST00000647636.1:c.694C>T	ENSP00000497505.1:p.Gln232Ter
ENST00000647909.1:c.718C>T	ENSP00000498164.1:p.Gln240Ter
ENST00000648145.1:c.462C>T
ENST00000648189.1:c.444C>T
ENST00000648256.1:c.643C>T	ENSP00000497356.1:p.Gln215Ter
ENST00000648314.1:c.694C>T	ENSP00000496920.1:p.Gln232Ter
ENST00000648599.1:c.694C>T	ENSP00000497159.1:p.Gln232Ter
ENST00000648630.1:c.688C>T	ENSP00000497887.1:p.Gln230Ter
ENST00000648682.1:c.694C>T	ENSP00000498185.1:p.Gln232Ter
ENST00000648882.1:c.*520C>T	ENSP00000497603.1:n.*520C>T
ENST00000648890.1:c.694C>T	ENSP00000497503.1:p.Gln232Ter
ENST00000648915.2:c.694C>T MANE Select	ENSP00000497160.1:p.Gln232Ter
ENST00000649545.1:c.428C>T
ENST00000649688.1:c.694C>T	ENSP00000497097.1:p.Gln232Ter
ENST00000649814.1:n.743C>T
ENST00000650270.1:c.561C>T
ENST00000273783.7:c.694C>T	ENSP00000273783.3:p.Gln232Ter
ENST00000432982.5:c.245+1500C>T
ENST00000444495.1:c.694C>T	ENSP00000409142.1:p.Gln232Ter
ENST00000468748.5:n.147C>T
ENST00000479833.1:n.10C>T
ENST00000481054.5:n.695C>T
ENST00000491008.5:n.658C>T
ENST00000491144.5:n.1134C>T
NM_003907.2:c.694C>T	NP_003898.2:p.Gln232Ter
XR_924208.1:n.1645C>T
NM_003907.3:c.694C>T MANE Select	NP_003898.2:p.Gln232Ter
XM_011513266.3:c.-208C>T	XP_011511568.1:n.-208C>T
XR_001740352.2:n.1057C>T
XR_001740353.2:n.1057C>T
XR_924208.2:n.1057C>T