Canonical Allele Identifier: CA548396887

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1461252494
• gnomAD v2: 3-183859997-A-T
• gnomAD v4: 3-184142209-A-T
• MyVariant Identifiers: chr3:g.183859997A>T (hg19) ; chr3:g.184142209A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184142209A>T , CM000665.2:g.184142209A>T	GRCh38
NC_000003.11:g.183859997A>T , CM000665.1:g.183859997A>T	GRCh37
NC_000003.10:g.185342691A>T	NCBI36
NG_015826.1:g.12188A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1326-28A>T
ENST00000468748.7:n.1546-28A>T
ENST00000484154.2:n.1533-28A>T
ENST00000491008.6:n.2051-28A>T
ENST00000492226.2:n.1570-28A>T
ENST00000492773.6:c.1057-28A>T
ENST00000647636.1:c.*152-28A>T	ENSP00000497505.1:n.*152-28A>T
ENST00000647909.1:c.1327-28A>T	ENSP00000498164.1:n.1327-28A>T
ENST00000648145.1:c.1075-28A>T
ENST00000648189.1:c.1121-28A>T
ENST00000648256.1:c.1275-28A>T	ENSP00000497356.1:n.1275-28A>T
ENST00000648314.1:c.*422-28A>T	ENSP00000496920.1:n.*422-28A>T
ENST00000648599.1:c.*586-28A>T	ENSP00000497159.1:n.*586-28A>T
ENST00000648630.1:c.1182-28A>T	ENSP00000497887.1:n.1182-28A>T
ENST00000648682.1:c.*143-28A>T	ENSP00000498185.1:n.*143-28A>T
ENST00000648882.1:c.*1129-28A>T	ENSP00000497603.1:n.*1129-28A>T
ENST00000648890.1:c.1303-28A>T	ENSP00000497503.1:n.1303-28A>T
ENST00000648915.2:c.1303-28A>T MANE Select	ENSP00000497160.1:n.1303-28A>T
ENST00000649545.1:c.724-89A>T
ENST00000649688.1:c.*596-28A>T	ENSP00000497097.1:n.*596-28A>T
ENST00000649814.1:n.1352-28A>T
ENST00000650270.1:c.1170-28A>T
ENST00000273783.7:c.1303-28A>T	ENSP00000273783.3:n.1303-28A>T
ENST00000432982.5:c.246-28A>T
ENST00000444495.1:c.1303-28A>T	ENSP00000409142.1:n.1303-28A>T
ENST00000479250.1:n.102A>T
ENST00000481054.5:n.1397-28A>T
ENST00000491144.5:n.1807-28A>T
ENST00000492773.5:n.186-28A>T
NM_003907.2:c.1303-28A>T	NP_003898.2:n.1303-28A>T
XM_011513265.1:c.553-28A>T	XP_011511567.1:n.553-28A>T
XM_011513266.1:c.466-28A>T	XP_011511568.1:n.466-28A>T
XR_924208.1:n.2254-28A>T
NM_003907.3:c.1303-28A>T MANE Select	NP_003898.2:n.1303-28A>T
XM_011513266.3:c.466-28A>T	XP_011511568.1:n.466-28A>T
XR_001740352.2:n.1666-28A>T
XR_001740353.2:n.1666-28A>T
XR_924208.2:n.1666-28A>T