Canonical Allele Identifier: CA355381116

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1192304635
• gnomAD v2: 3-183853224-C-A
• gnomAD v3: 3-184135436-C-A
• gnomAD v4: 3-184135436-C-A
• MyVariant Identifiers: chr3:g.183853224C>A (hg19) ; chr3:g.184135436C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184135436C>A , CM000665.2:g.184135436C>A	GRCh38
NC_000003.11:g.183853224C>A , CM000665.1:g.183853224C>A	GRCh37
NC_000003.10:g.185335918C>A	NCBI36
NG_015826.1:g.5415C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000432569.2:c.51C>A	ENSP00000414775.1:p.Asn17Lys
ENST00000465218.3:n.74C>A
ENST00000468748.7:n.34C>A
ENST00000471832.2:c.51C>A	ENSP00000497786.1:p.Asn17Lys
ENST00000492226.2:n.48C>A
ENST00000647636.1:c.51C>A	ENSP00000497505.1:p.Asn17Lys
ENST00000647909.1:c.51C>A	ENSP00000498164.1:p.Asn17Lys
ENST00000648314.1:c.51C>A	ENSP00000496920.1:p.Asn17Lys
ENST00000648599.1:c.51C>A	ENSP00000497159.1:p.Asn17Lys
ENST00000648630.1:c.45C>A	ENSP00000497887.1:p.Asn15Lys
ENST00000648682.1:c.51C>A	ENSP00000498185.1:p.Asn17Lys
ENST00000648882.1:c.51C>A	ENSP00000497603.1:p.Asn17Lys
ENST00000648890.1:c.51C>A	ENSP00000497503.1:p.Asn17Lys
ENST00000648915.2:c.51C>A MANE Select	ENSP00000497160.1:p.Asn17Lys
ENST00000649688.1:c.51C>A	ENSP00000497097.1:p.Asn17Lys
ENST00000649814.1:n.100C>A
ENST00000273783.7:c.51C>A	ENSP00000273783.3:p.Asn17Lys
ENST00000432569.1:c.51C>A	ENSP00000414775.1:p.Asn17Lys
ENST00000432982.5:c.37C>A
ENST00000444495.1:c.51C>A	ENSP00000409142.1:p.Asn17Lys
ENST00000481054.5:n.52C>A
ENST00000491144.5:n.399C>A
NM_003907.2:c.51C>A	NP_003898.2:p.Asn17Lys
XR_924208.1:n.1002C>A
NM_003907.3:c.51C>A MANE Select	NP_003898.2:p.Asn17Lys
XM_011513266.3:c.-851C>A	XP_011511568.1:n.-851C>A
XR_001740352.2:n.414C>A
XR_001740353.2:n.414C>A
XR_924208.2:n.414C>A