Canonical Allele Identifier: CA437323451

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 1145538
• ClinVar RCV Id: RCV001484439
• dbSNP Id: rs773972380
• gnomAD v4: 3-184137749-G-C
• MyVariant Identifiers: chr3:g.183855537G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137749G>C , CM000665.2:g.184137749G>C	GRCh38
NC_000003.11:g.183855537G>C , CM000665.1:g.183855537G>C	GRCh37
NC_000003.10:g.185338231G>C	NCBI36
NG_015826.1:g.7728G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.473G>C
ENST00000468748.7:n.433G>C
ENST00000484154.2:n.1071G>C
ENST00000491008.6:n.1198G>C
ENST00000492226.2:n.447G>C
ENST00000492773.6:c.182G>C
ENST00000647636.1:c.450G>C	ENSP00000497505.1:p.Leu150=
ENST00000647909.1:c.450G>C	ENSP00000498164.1:p.Leu150=
ENST00000648145.1:c.218G>C
ENST00000648189.1:c.200G>C
ENST00000648256.1:c.399G>C	ENSP00000497356.1:p.Leu133=
ENST00000648314.1:c.450G>C	ENSP00000496920.1:p.Leu150=
ENST00000648599.1:c.450G>C	ENSP00000497159.1:p.Leu150=
ENST00000648630.1:c.444G>C	ENSP00000497887.1:p.Leu148=
ENST00000648682.1:c.450G>C	ENSP00000498185.1:p.Leu150=
ENST00000648882.1:c.*276G>C	ENSP00000497603.1:n.*276G>C
ENST00000648890.1:c.450G>C	ENSP00000497503.1:p.Leu150=
ENST00000648915.2:c.450G>C MANE Select	ENSP00000497160.1:p.Leu150=
ENST00000649545.1:c.184G>C
ENST00000649688.1:c.450G>C	ENSP00000497097.1:p.Leu150=
ENST00000649814.1:n.499G>C
ENST00000650244.1:c.595G>C	ENSP00000497227.1:n.595G>C
ENST00000650270.1:c.317G>C
ENST00000273783.7:c.450G>C	ENSP00000273783.3:p.Leu150=
ENST00000432982.5:c.245+1074G>C
ENST00000444495.1:c.450G>C	ENSP00000409142.1:p.Leu150=
ENST00000481054.5:n.451G>C
ENST00000491008.5:n.414G>C
ENST00000491144.5:n.798G>C
ENST00000498831.1:n.405G>C
NM_003907.2:c.450G>C	NP_003898.2:p.Leu150=
XR_924208.1:n.1401G>C
NM_003907.3:c.450G>C MANE Select	NP_003898.2:p.Leu150=
XM_011513266.3:c.-452G>C	XP_011511568.1:n.-452G>C
XR_001740352.2:n.813G>C
XR_001740353.2:n.813G>C
XR_924208.2:n.813G>C