Canonical Allele Identifier: CA437147750

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184141950-C-T
• MyVariant Identifiers: chr3:g.183859738C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184141950C>T , CM000665.2:g.184141950C>T	GRCh38
NC_000003.11:g.183859738C>T , CM000665.1:g.183859738C>T	GRCh37
NC_000003.10:g.185342432C>T	NCBI36
NG_015826.1:g.11929C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1205C>T
ENST00000468748.7:n.1425C>T
ENST00000484154.2:n.1412C>T
ENST00000491008.6:n.1930C>T
ENST00000492226.2:n.1449C>T
ENST00000492773.6:c.936C>T
ENST00000647636.1:c.*31C>T	ENSP00000497505.1:n.*31C>T
ENST00000647909.1:c.1206C>T	ENSP00000498164.1:p.Thr402=
ENST00000648145.1:c.954C>T
ENST00000648189.1:c.1000C>T
ENST00000648256.1:c.1154C>T	ENSP00000497356.1:n.1154C>T
ENST00000648314.1:c.*301C>T	ENSP00000496920.1:n.*301C>T
ENST00000648599.1:c.*465C>T	ENSP00000497159.1:n.*465C>T
ENST00000648630.1:c.1061C>T	ENSP00000497887.1:p.Pro354Leu
ENST00000648682.1:c.*22C>T	ENSP00000498185.1:n.*22C>T
ENST00000648882.1:c.*1008C>T	ENSP00000497603.1:n.*1008C>T
ENST00000648890.1:c.1182C>T	ENSP00000497503.1:p.Thr394=
ENST00000648915.2:c.1182C>T MANE Select	ENSP00000497160.1:p.Thr394=
ENST00000649545.1:c.603C>T
ENST00000649688.1:c.*475C>T	ENSP00000497097.1:n.*475C>T
ENST00000649814.1:n.1231C>T
ENST00000650270.1:c.1049C>T
ENST00000273783.7:c.1182C>T	ENSP00000273783.3:p.Thr394=
ENST00000432982.5:c.246-287C>T
ENST00000444495.1:c.1182C>T	ENSP00000409142.1:p.Thr394=
ENST00000479833.1:n.383C>T
ENST00000481054.5:n.1276C>T
ENST00000491144.5:n.1686C>T
ENST00000492773.5:n.65C>T
NM_003907.2:c.1182C>T	NP_003898.2:p.Thr394=
XM_011513265.1:c.432C>T	XP_011511567.1:p.Thr144=
XM_011513266.1:c.345C>T	XP_011511568.1:p.Thr115=
XR_924208.1:n.2133C>T
NM_003907.3:c.1182C>T MANE Select	NP_003898.2:p.Thr394=
XM_011513266.3:c.345C>T	XP_011511568.1:p.Thr115=
XR_001740352.2:n.1545C>T
XR_001740353.2:n.1545C>T
XR_924208.2:n.1545C>T