Canonical Allele Identifier: CA2726428

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 1161960
• ClinVar RCV Id: RCV001506678 ; RCV001826348
• dbSNP Id: rs757699338
• ExAC: 3:183855779 T / C
• gnomAD v2: 3-183855779-T-C
• gnomAD v3: 3-184137991-T-C
• gnomAD v4: 3-184137991-T-C
• MyVariant Identifiers: chr3:g.183855779T>C (hg19) ; chr3:g.183855779_183855782delinsCGTG (hg19) ; chr3:g.184137991T>C (hg38) ; chr3:g.184137991_184137994delinsCGTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137991T>C , CM000665.2:g.184137991T>C	GRCh38
NC_000003.11:g.183855779T>C , CM000665.1:g.183855779T>C	GRCh37
NC_000003.10:g.185338473T>C	NCBI36
NG_015826.1:g.7970T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.623T>C
ENST00000468748.7:n.583T>C
ENST00000484154.2:n.1221T>C
ENST00000491008.6:n.1348T>C
ENST00000492226.2:n.597T>C
ENST00000492773.6:c.332T>C
ENST00000647636.1:c.600T>C	ENSP00000497505.1:p.Asn200=
ENST00000647909.1:c.624T>C	ENSP00000498164.1:p.Asn208=
ENST00000648145.1:c.368T>C
ENST00000648189.1:c.350T>C
ENST00000648256.1:c.549T>C	ENSP00000497356.1:p.Asn183=
ENST00000648314.1:c.600T>C	ENSP00000496920.1:p.Asn200=
ENST00000648599.1:c.600T>C	ENSP00000497159.1:p.Asn200=
ENST00000648630.1:c.594T>C	ENSP00000497887.1:p.Asn198=
ENST00000648682.1:c.600T>C	ENSP00000498185.1:p.Asn200=
ENST00000648882.1:c.*426T>C	ENSP00000497603.1:n.*426T>C
ENST00000648890.1:c.600T>C	ENSP00000497503.1:p.Asn200=
ENST00000648915.2:c.600T>C MANE Select	ENSP00000497160.1:p.Asn200=
ENST00000649545.1:c.334T>C
ENST00000649688.1:c.600T>C	ENSP00000497097.1:p.Asn200=
ENST00000649814.1:n.649T>C
ENST00000650270.1:c.467T>C
ENST00000273783.7:c.600T>C	ENSP00000273783.3:p.Asn200=
ENST00000432982.5:c.245+1316T>C
ENST00000444495.1:c.600T>C	ENSP00000409142.1:p.Asn200=
ENST00000468748.5:n.53T>C
ENST00000481054.5:n.601T>C
ENST00000491008.5:n.564T>C
ENST00000491144.5:n.1040T>C
ENST00000498831.1:n.555T>C
NM_003907.2:c.600T>C	NP_003898.2:p.Asn200=
XR_924208.1:n.1551T>C
NM_003907.3:c.600T>C MANE Select	NP_003898.2:p.Asn200=
XM_011513266.3:c.-302T>C	XP_011511568.1:n.-302T>C
XR_001740352.2:n.963T>C
XR_001740353.2:n.963T>C
XR_924208.2:n.963T>C