Canonical Allele Identifier: CA355386763

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184141960-C-G
• MyVariant Identifiers: chr3:g.183859748C>G (hg19) ; chr3:g.184141960C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184141960C>G , CM000665.2:g.184141960C>G	GRCh38
NC_000003.11:g.183859748C>G , CM000665.1:g.183859748C>G	GRCh37
NC_000003.10:g.185342442C>G	NCBI36
NG_015826.1:g.11939C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1215C>G
ENST00000468748.7:n.1435C>G
ENST00000484154.2:n.1422C>G
ENST00000491008.6:n.1940C>G
ENST00000492226.2:n.1459C>G
ENST00000492773.6:c.946C>G
ENST00000647636.1:c.*41C>G	ENSP00000497505.1:n.*41C>G
ENST00000647909.1:c.1216C>G	ENSP00000498164.1:p.Gln406Glu
ENST00000648145.1:c.964C>G
ENST00000648189.1:c.1010C>G
ENST00000648256.1:c.1164C>G	ENSP00000497356.1:n.1164C>G
ENST00000648314.1:c.*311C>G	ENSP00000496920.1:n.*311C>G
ENST00000648599.1:c.*475C>G	ENSP00000497159.1:n.*475C>G
ENST00000648630.1:c.1071C>G	ENSP00000497887.1:p.Gly357=
ENST00000648682.1:c.*32C>G	ENSP00000498185.1:n.*32C>G
ENST00000648882.1:c.*1018C>G	ENSP00000497603.1:n.*1018C>G
ENST00000648890.1:c.1192C>G	ENSP00000497503.1:p.Gln398Glu
ENST00000648915.2:c.1192C>G MANE Select	ENSP00000497160.1:p.Gln398Glu
ENST00000649545.1:c.613C>G
ENST00000649688.1:c.*485C>G	ENSP00000497097.1:n.*485C>G
ENST00000649814.1:n.1241C>G
ENST00000650270.1:c.1059C>G
ENST00000273783.7:c.1192C>G	ENSP00000273783.3:p.Gln398Glu
ENST00000432982.5:c.246-277C>G
ENST00000444495.1:c.1192C>G	ENSP00000409142.1:p.Gln398Glu
ENST00000479833.1:n.393C>G
ENST00000481054.5:n.1286C>G
ENST00000491144.5:n.1696C>G
ENST00000492773.5:n.75C>G
NM_003907.2:c.1192C>G	NP_003898.2:p.Gln398Glu
XM_011513265.1:c.442C>G	XP_011511567.1:p.Gln148Glu
XM_011513266.1:c.355C>G	XP_011511568.1:p.Gln119Glu
XR_924208.1:n.2143C>G
NM_003907.3:c.1192C>G MANE Select	NP_003898.2:p.Gln398Glu
XM_011513266.3:c.355C>G	XP_011511568.1:p.Gln119Glu
XR_001740352.2:n.1555C>G
XR_001740353.2:n.1555C>G
XR_924208.2:n.1555C>G