Canonical Allele Identifier: CA437323624

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 2701037
• ClinVar RCV Id: RCV003549504
• gnomAD v4: 3-184138045-C-T
• MyVariant Identifiers: chr3:g.183855833C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138045C>T , CM000665.2:g.184138045C>T	GRCh38
NC_000003.11:g.183855833C>T , CM000665.1:g.183855833C>T	GRCh37
NC_000003.10:g.185338527C>T	NCBI36
NG_015826.1:g.8024C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.677C>T
ENST00000468748.7:n.637C>T
ENST00000484154.2:n.1275C>T
ENST00000491008.6:n.1402C>T
ENST00000492226.2:n.651C>T
ENST00000492773.6:c.386C>T
ENST00000647636.1:c.654C>T	ENSP00000497505.1:p.Thr218=
ENST00000647909.1:c.678C>T	ENSP00000498164.1:p.Thr226=
ENST00000648145.1:c.422C>T
ENST00000648189.1:c.404C>T
ENST00000648256.1:c.603C>T	ENSP00000497356.1:p.Thr201=
ENST00000648314.1:c.654C>T	ENSP00000496920.1:p.Thr218=
ENST00000648599.1:c.654C>T	ENSP00000497159.1:p.Thr218=
ENST00000648630.1:c.648C>T	ENSP00000497887.1:p.Thr216=
ENST00000648682.1:c.654C>T	ENSP00000498185.1:p.Thr218=
ENST00000648882.1:c.*480C>T	ENSP00000497603.1:n.*480C>T
ENST00000648890.1:c.654C>T	ENSP00000497503.1:p.Thr218=
ENST00000648915.2:c.654C>T MANE Select	ENSP00000497160.1:p.Thr218=
ENST00000649545.1:c.388C>T
ENST00000649688.1:c.654C>T	ENSP00000497097.1:p.Thr218=
ENST00000649814.1:n.703C>T
ENST00000650270.1:c.521C>T
ENST00000273783.7:c.654C>T	ENSP00000273783.3:p.Thr218=
ENST00000432982.5:c.245+1370C>T
ENST00000444495.1:c.654C>T	ENSP00000409142.1:p.Thr218=
ENST00000468748.5:n.107C>T
ENST00000481054.5:n.655C>T
ENST00000491008.5:n.618C>T
ENST00000491144.5:n.1094C>T
NM_003907.2:c.654C>T	NP_003898.2:p.Thr218=
XR_924208.1:n.1605C>T
NM_003907.3:c.654C>T MANE Select	NP_003898.2:p.Thr218=
XM_011513266.3:c.-248C>T	XP_011511568.1:n.-248C>T
XR_001740352.2:n.1017C>T
XR_001740353.2:n.1017C>T
XR_924208.2:n.1017C>T