Canonical Allele Identifier: CA355382377

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184138017-C-T
• MyVariant Identifiers: chr3:g.183855805C>T (hg19) ; chr3:g.184138017C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138017C>T , CM000665.2:g.184138017C>T	GRCh38
NC_000003.11:g.183855805C>T , CM000665.1:g.183855805C>T	GRCh37
NC_000003.10:g.185338499C>T	NCBI36
NG_015826.1:g.7996C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.649C>T
ENST00000468748.7:n.609C>T
ENST00000484154.2:n.1247C>T
ENST00000491008.6:n.1374C>T
ENST00000492226.2:n.623C>T
ENST00000492773.6:c.358C>T
ENST00000647636.1:c.626C>T	ENSP00000497505.1:p.Thr209Ile
ENST00000647909.1:c.650C>T	ENSP00000498164.1:p.Thr217Ile
ENST00000648145.1:c.394C>T
ENST00000648189.1:c.376C>T
ENST00000648256.1:c.575C>T	ENSP00000497356.1:p.Thr192Ile
ENST00000648314.1:c.626C>T	ENSP00000496920.1:p.Thr209Ile
ENST00000648599.1:c.626C>T	ENSP00000497159.1:p.Thr209Ile
ENST00000648630.1:c.620C>T	ENSP00000497887.1:p.Thr207Ile
ENST00000648682.1:c.626C>T	ENSP00000498185.1:p.Thr209Ile
ENST00000648882.1:c.*452C>T	ENSP00000497603.1:n.*452C>T
ENST00000648890.1:c.626C>T	ENSP00000497503.1:p.Thr209Ile
ENST00000648915.2:c.626C>T MANE Select	ENSP00000497160.1:p.Thr209Ile
ENST00000649545.1:c.360C>T
ENST00000649688.1:c.626C>T	ENSP00000497097.1:p.Thr209Ile
ENST00000649814.1:n.675C>T
ENST00000650270.1:c.493C>T
ENST00000273783.7:c.626C>T	ENSP00000273783.3:p.Thr209Ile
ENST00000432982.5:c.245+1342C>T
ENST00000444495.1:c.626C>T	ENSP00000409142.1:p.Thr209Ile
ENST00000468748.5:n.79C>T
ENST00000481054.5:n.627C>T
ENST00000491008.5:n.590C>T
ENST00000491144.5:n.1066C>T
ENST00000498831.1:n.581C>T
NM_003907.2:c.626C>T	NP_003898.2:p.Thr209Ile
XR_924208.1:n.1577C>T
NM_003907.3:c.626C>T MANE Select	NP_003898.2:p.Thr209Ile
XM_011513266.3:c.-276C>T	XP_011511568.1:n.-276C>T
XR_001740352.2:n.989C>T
XR_001740353.2:n.989C>T
XR_924208.2:n.989C>T