Canonical Allele Identifier: CA355382436

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184138043-A-T
• MyVariant Identifiers: chr3:g.183855831A>T (hg19) ; chr3:g.184138043A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138043A>T , CM000665.2:g.184138043A>T	GRCh38
NC_000003.11:g.183855831A>T , CM000665.1:g.183855831A>T	GRCh37
NC_000003.10:g.185338525A>T	NCBI36
NG_015826.1:g.8022A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.675A>T
ENST00000468748.7:n.635A>T
ENST00000484154.2:n.1273A>T
ENST00000491008.6:n.1400A>T
ENST00000492226.2:n.649A>T
ENST00000492773.6:c.384A>T
ENST00000647636.1:c.652A>T	ENSP00000497505.1:p.Thr218Ser
ENST00000647909.1:c.676A>T	ENSP00000498164.1:p.Thr226Ser
ENST00000648145.1:c.420A>T
ENST00000648189.1:c.402A>T
ENST00000648256.1:c.601A>T	ENSP00000497356.1:p.Thr201Ser
ENST00000648314.1:c.652A>T	ENSP00000496920.1:p.Thr218Ser
ENST00000648599.1:c.652A>T	ENSP00000497159.1:p.Thr218Ser
ENST00000648630.1:c.646A>T	ENSP00000497887.1:p.Thr216Ser
ENST00000648682.1:c.652A>T	ENSP00000498185.1:p.Thr218Ser
ENST00000648882.1:c.*478A>T	ENSP00000497603.1:n.*478A>T
ENST00000648890.1:c.652A>T	ENSP00000497503.1:p.Thr218Ser
ENST00000648915.2:c.652A>T MANE Select	ENSP00000497160.1:p.Thr218Ser
ENST00000649545.1:c.386A>T
ENST00000649688.1:c.652A>T	ENSP00000497097.1:p.Thr218Ser
ENST00000649814.1:n.701A>T
ENST00000650270.1:c.519A>T
ENST00000273783.7:c.652A>T	ENSP00000273783.3:p.Thr218Ser
ENST00000432982.5:c.245+1368A>T
ENST00000444495.1:c.652A>T	ENSP00000409142.1:p.Thr218Ser
ENST00000468748.5:n.105A>T
ENST00000481054.5:n.653A>T
ENST00000491008.5:n.616A>T
ENST00000491144.5:n.1092A>T
NM_003907.2:c.652A>T	NP_003898.2:p.Thr218Ser
XR_924208.1:n.1603A>T
NM_003907.3:c.652A>T MANE Select	NP_003898.2:p.Thr218Ser
XM_011513266.3:c.-250A>T	XP_011511568.1:n.-250A>T
XR_001740352.2:n.1015A>T
XR_001740353.2:n.1015A>T
XR_924208.2:n.1015A>T