Canonical Allele Identifier: CA2726463

Gene: EIF2B5

Linked Data

• dbSNP Id: rs768604524
• ExAC: 3:183855973 G / A
• gnomAD v2: 3-183855973-G-A
• gnomAD v3: 3-184138185-G-A
• gnomAD v4: 3-184138185-G-A
• MyVariant Identifiers: chr3:g.183855973G>A (hg19) ; chr3:g.184138185G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138185G>A , CM000665.2:g.184138185G>A	GRCh38
NC_000003.11:g.183855973G>A , CM000665.1:g.183855973G>A	GRCh37
NC_000003.10:g.185338667G>A	NCBI36
NG_015826.1:g.8164G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.727G>A
ENST00000468748.7:n.687G>A
ENST00000484154.2:n.1325G>A
ENST00000491008.6:n.1452G>A
ENST00000492226.2:n.701G>A
ENST00000492773.6:c.458G>A
ENST00000647636.1:c.704G>A	ENSP00000497505.1:p.Ser235Asn
ENST00000647909.1:c.728G>A	ENSP00000498164.1:p.Ser243Asn
ENST00000648145.1:c.472G>A
ENST00000648189.1:c.454G>A
ENST00000648256.1:c.653G>A	ENSP00000497356.1:p.Ser218Asn
ENST00000648314.1:c.704G>A	ENSP00000496920.1:p.Ser235Asn
ENST00000648599.1:c.704G>A	ENSP00000497159.1:p.Ser235Asn
ENST00000648630.1:c.698G>A	ENSP00000497887.1:p.Ser233Asn
ENST00000648682.1:c.704G>A	ENSP00000498185.1:p.Ser235Asn
ENST00000648882.1:c.*530G>A	ENSP00000497603.1:n.*530G>A
ENST00000648890.1:c.704G>A	ENSP00000497503.1:p.Ser235Asn
ENST00000648915.2:c.704G>A MANE Select	ENSP00000497160.1:p.Ser235Asn
ENST00000649545.1:c.438G>A
ENST00000649688.1:c.704G>A	ENSP00000497097.1:p.Ser235Asn
ENST00000649814.1:n.753G>A
ENST00000650270.1:c.571G>A
ENST00000273783.7:c.704G>A	ENSP00000273783.3:p.Ser235Asn
ENST00000432982.5:c.245+1510G>A
ENST00000444495.1:c.704G>A	ENSP00000409142.1:p.Ser235Asn
ENST00000468748.5:n.157G>A
ENST00000479833.1:n.20G>A
ENST00000481054.5:n.705G>A
ENST00000491008.5:n.668G>A
ENST00000491144.5:n.1144G>A
NM_003907.2:c.704G>A	NP_003898.2:p.Ser235Asn
XR_924208.1:n.1655G>A
NM_003907.3:c.704G>A MANE Select	NP_003898.2:p.Ser235Asn
XM_011513266.3:c.-198G>A	XP_011511568.1:n.-198G>A
XR_001740352.2:n.1067G>A
XR_001740353.2:n.1067G>A
XR_924208.2:n.1067G>A