Canonical Allele Identifier: CA437145295

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 1077860
• ClinVar RCV Id: RCV001392543
• dbSNP Id: rs768780694
• gnomAD v4: 3-184135451-G-T
• MyVariant Identifiers: chr3:g.183853239G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184135451G>T , CM000665.2:g.184135451G>T	GRCh38
NC_000003.11:g.183853239G>T , CM000665.1:g.183853239G>T	GRCh37
NC_000003.10:g.185335933G>T	NCBI36
NG_015826.1:g.5430G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432569.2:c.66G>T	ENSP00000414775.1:p.Ala22=
ENST00000465218.3:n.89G>T
ENST00000468748.7:n.49G>T
ENST00000471832.2:c.66G>T	ENSP00000497786.1:p.Ala22=
ENST00000492226.2:n.63G>T
ENST00000647636.1:c.66G>T	ENSP00000497505.1:p.Ala22=
ENST00000647909.1:c.66G>T	ENSP00000498164.1:p.Ala22=
ENST00000648256.1:c.15G>T	ENSP00000497356.1:p.Ala5=
ENST00000648314.1:c.66G>T	ENSP00000496920.1:p.Ala22=
ENST00000648599.1:c.66G>T	ENSP00000497159.1:p.Ala22=
ENST00000648630.1:c.60G>T	ENSP00000497887.1:p.Ala20=
ENST00000648682.1:c.66G>T	ENSP00000498185.1:p.Ala22=
ENST00000648882.1:c.66G>T	ENSP00000497603.1:p.Ala22=
ENST00000648890.1:c.66G>T	ENSP00000497503.1:p.Ala22=
ENST00000648915.2:c.66G>T MANE Select	ENSP00000497160.1:p.Ala22=
ENST00000649688.1:c.66G>T	ENSP00000497097.1:p.Ala22=
ENST00000649814.1:n.115G>T
ENST00000273783.7:c.66G>T	ENSP00000273783.3:p.Ala22=
ENST00000432569.1:c.66G>T	ENSP00000414775.1:p.Ala22=
ENST00000432982.5:c.52G>T
ENST00000444495.1:c.66G>T	ENSP00000409142.1:p.Ala22=
ENST00000481054.5:n.67G>T
ENST00000491144.5:n.414G>T
NM_003907.2:c.66G>T	NP_003898.2:p.Ala22=
XR_924208.1:n.1017G>T
NM_003907.3:c.66G>T MANE Select	NP_003898.2:p.Ala22=
XM_011513266.3:c.-836G>T	XP_011511568.1:n.-836G>T
XR_001740352.2:n.429G>T
XR_001740353.2:n.429G>T
XR_924208.2:n.429G>T