Canonical Allele Identifier: CA355382382

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184138020-A-G
• MyVariant Identifiers: chr3:g.183855808A>G (hg19) ; chr3:g.184138020A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138020A>G , CM000665.2:g.184138020A>G	GRCh38
NC_000003.11:g.183855808A>G , CM000665.1:g.183855808A>G	GRCh37
NC_000003.10:g.185338502A>G	NCBI36
NG_015826.1:g.7999A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.652A>G
ENST00000468748.7:n.612A>G
ENST00000484154.2:n.1250A>G
ENST00000491008.6:n.1377A>G
ENST00000492226.2:n.626A>G
ENST00000492773.6:c.361A>G
ENST00000647636.1:c.629A>G	ENSP00000497505.1:p.Asn210Ser
ENST00000647909.1:c.653A>G	ENSP00000498164.1:p.Asn218Ser
ENST00000648145.1:c.397A>G
ENST00000648189.1:c.379A>G
ENST00000648256.1:c.578A>G	ENSP00000497356.1:p.Asn193Ser
ENST00000648314.1:c.629A>G	ENSP00000496920.1:p.Asn210Ser
ENST00000648599.1:c.629A>G	ENSP00000497159.1:p.Asn210Ser
ENST00000648630.1:c.623A>G	ENSP00000497887.1:p.Asn208Ser
ENST00000648682.1:c.629A>G	ENSP00000498185.1:p.Asn210Ser
ENST00000648882.1:c.*455A>G	ENSP00000497603.1:n.*455A>G
ENST00000648890.1:c.629A>G	ENSP00000497503.1:p.Asn210Ser
ENST00000648915.2:c.629A>G MANE Select	ENSP00000497160.1:p.Asn210Ser
ENST00000649545.1:c.363A>G
ENST00000649688.1:c.629A>G	ENSP00000497097.1:p.Asn210Ser
ENST00000649814.1:n.678A>G
ENST00000650270.1:c.496A>G
ENST00000273783.7:c.629A>G	ENSP00000273783.3:p.Asn210Ser
ENST00000432982.5:c.245+1345A>G
ENST00000444495.1:c.629A>G	ENSP00000409142.1:p.Asn210Ser
ENST00000468748.5:n.82A>G
ENST00000481054.5:n.630A>G
ENST00000491008.5:n.593A>G
ENST00000491144.5:n.1069A>G
ENST00000498831.1:n.584A>G
NM_003907.2:c.629A>G	NP_003898.2:p.Asn210Ser
XR_924208.1:n.1580A>G
NM_003907.3:c.629A>G MANE Select	NP_003898.2:p.Asn210Ser
XM_011513266.3:c.-273A>G	XP_011511568.1:n.-273A>G
XR_001740352.2:n.992A>G
XR_001740353.2:n.992A>G
XR_924208.2:n.992A>G