Canonical Allele Identifier: CA2726417

Gene: EIF2B5

Linked Data

• dbSNP Id: rs774920163
• ExAC: 3:183855710 T / A
• gnomAD v2: 3-183855710-T-A
• gnomAD v4: 3-184137922-T-A
• MyVariant Identifiers: chr3:g.183855710T>A (hg19) ; chr3:g.184137922T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137922T>A , CM000665.2:g.184137922T>A	GRCh38
NC_000003.11:g.183855710T>A , CM000665.1:g.183855710T>A	GRCh37
NC_000003.10:g.185338404T>A	NCBI36
NG_015826.1:g.7901T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.554T>A
ENST00000468748.7:n.514T>A
ENST00000484154.2:n.1152T>A
ENST00000491008.6:n.1279T>A
ENST00000492226.2:n.528T>A
ENST00000492773.6:c.263T>A
ENST00000647636.1:c.531T>A	ENSP00000497505.1:p.Asn177Lys
ENST00000647909.1:c.555T>A	ENSP00000498164.1:p.Asn185Lys
ENST00000648145.1:c.299T>A
ENST00000648189.1:c.281T>A
ENST00000648256.1:c.480T>A	ENSP00000497356.1:p.Asn160Lys
ENST00000648314.1:c.531T>A	ENSP00000496920.1:p.Asn177Lys
ENST00000648599.1:c.531T>A	ENSP00000497159.1:p.Asn177Lys
ENST00000648630.1:c.525T>A	ENSP00000497887.1:p.Asn175Lys
ENST00000648682.1:c.531T>A	ENSP00000498185.1:p.Asn177Lys
ENST00000648882.1:c.*357T>A	ENSP00000497603.1:n.*357T>A
ENST00000648890.1:c.531T>A	ENSP00000497503.1:p.Asn177Lys
ENST00000648915.2:c.531T>A MANE Select	ENSP00000497160.1:p.Asn177Lys
ENST00000649545.1:c.265T>A
ENST00000649688.1:c.531T>A	ENSP00000497097.1:p.Asn177Lys
ENST00000649814.1:n.580T>A
ENST00000650244.1:c.676T>A	ENSP00000497227.1:n.676T>A
ENST00000650270.1:c.398T>A
ENST00000273783.7:c.531T>A	ENSP00000273783.3:p.Asn177Lys
ENST00000432982.5:c.245+1247T>A
ENST00000444495.1:c.531T>A	ENSP00000409142.1:p.Asn177Lys
ENST00000481054.5:n.532T>A
ENST00000491008.5:n.495T>A
ENST00000491144.5:n.971T>A
ENST00000498831.1:n.486T>A
NM_003907.2:c.531T>A	NP_003898.2:p.Asn177Lys
XR_924208.1:n.1482T>A
NM_003907.3:c.531T>A MANE Select	NP_003898.2:p.Asn177Lys
XM_011513266.3:c.-371T>A	XP_011511568.1:n.-371T>A
XR_001740352.2:n.894T>A
XR_001740353.2:n.894T>A
XR_924208.2:n.894T>A