Canonical Allele Identifier: CA355382094

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1338670519
• gnomAD v2: 3-183855589-C-T
• gnomAD v4: 3-184137801-C-T
• MyVariant Identifiers: chr3:g.183855589C>T (hg19) ; chr3:g.184137801C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137801C>T , CM000665.2:g.184137801C>T	GRCh38
NC_000003.11:g.183855589C>T , CM000665.1:g.183855589C>T	GRCh37
NC_000003.10:g.185338283C>T	NCBI36
NG_015826.1:g.7780C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.525C>T
ENST00000468748.7:n.485C>T
ENST00000484154.2:n.1123C>T
ENST00000491008.6:n.1250C>T
ENST00000492226.2:n.499C>T
ENST00000492773.6:c.234C>T
ENST00000647636.1:c.502C>T	ENSP00000497505.1:p.His168Tyr
ENST00000647909.1:c.502C>T	ENSP00000498164.1:p.His168Tyr
ENST00000648145.1:c.270C>T
ENST00000648189.1:c.252C>T
ENST00000648256.1:c.451C>T	ENSP00000497356.1:p.His151Tyr
ENST00000648314.1:c.502C>T	ENSP00000496920.1:p.His168Tyr
ENST00000648599.1:c.502C>T	ENSP00000497159.1:p.His168Tyr
ENST00000648630.1:c.496C>T	ENSP00000497887.1:p.His166Tyr
ENST00000648682.1:c.502C>T	ENSP00000498185.1:p.His168Tyr
ENST00000648882.1:c.*328C>T	ENSP00000497603.1:n.*328C>T
ENST00000648890.1:c.502C>T	ENSP00000497503.1:p.His168Tyr
ENST00000648915.2:c.502C>T MANE Select	ENSP00000497160.1:p.His168Tyr
ENST00000649545.1:c.236C>T
ENST00000649688.1:c.502C>T	ENSP00000497097.1:p.His168Tyr
ENST00000649814.1:n.551C>T
ENST00000650244.1:c.647C>T	ENSP00000497227.1:n.647C>T
ENST00000650270.1:c.369C>T
ENST00000273783.7:c.502C>T	ENSP00000273783.3:p.His168Tyr
ENST00000432982.5:c.245+1126C>T
ENST00000444495.1:c.502C>T	ENSP00000409142.1:p.His168Tyr
ENST00000481054.5:n.503C>T
ENST00000491008.5:n.466C>T
ENST00000491144.5:n.850C>T
ENST00000498831.1:n.457C>T
NM_003907.2:c.502C>T	NP_003898.2:p.His168Tyr
XR_924208.1:n.1453C>T
NM_003907.3:c.502C>T MANE Select	NP_003898.2:p.His168Tyr
XM_011513266.3:c.-400C>T	XP_011511568.1:n.-400C>T
XR_001740352.2:n.865C>T
XR_001740353.2:n.865C>T
XR_924208.2:n.865C>T