Canonical Allele Identifier: CA355382295

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184137979-C-G
• MyVariant Identifiers: chr3:g.183855767C>G (hg19) ; chr3:g.184137979C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137979C>G , CM000665.2:g.184137979C>G	GRCh38
NC_000003.11:g.183855767C>G , CM000665.1:g.183855767C>G	GRCh37
NC_000003.10:g.185338461C>G	NCBI36
NG_015826.1:g.7958C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.611C>G
ENST00000468748.7:n.571C>G
ENST00000484154.2:n.1209C>G
ENST00000491008.6:n.1336C>G
ENST00000492226.2:n.585C>G
ENST00000492773.6:c.320C>G
ENST00000647636.1:c.588C>G	ENSP00000497505.1:p.Cys196Trp
ENST00000647909.1:c.612C>G	ENSP00000498164.1:p.Cys204Trp
ENST00000648145.1:c.356C>G
ENST00000648189.1:c.338C>G
ENST00000648256.1:c.537C>G	ENSP00000497356.1:p.Cys179Trp
ENST00000648314.1:c.588C>G	ENSP00000496920.1:p.Cys196Trp
ENST00000648599.1:c.588C>G	ENSP00000497159.1:p.Cys196Trp
ENST00000648630.1:c.582C>G	ENSP00000497887.1:p.Cys194Trp
ENST00000648682.1:c.588C>G	ENSP00000498185.1:p.Cys196Trp
ENST00000648882.1:c.*414C>G	ENSP00000497603.1:n.*414C>G
ENST00000648890.1:c.588C>G	ENSP00000497503.1:p.Cys196Trp
ENST00000648915.2:c.588C>G MANE Select	ENSP00000497160.1:p.Cys196Trp
ENST00000649545.1:c.322C>G
ENST00000649688.1:c.588C>G	ENSP00000497097.1:p.Cys196Trp
ENST00000649814.1:n.637C>G
ENST00000650270.1:c.455C>G
ENST00000273783.7:c.588C>G	ENSP00000273783.3:p.Cys196Trp
ENST00000432982.5:c.245+1304C>G
ENST00000444495.1:c.588C>G	ENSP00000409142.1:p.Cys196Trp
ENST00000468748.5:n.41C>G
ENST00000481054.5:n.589C>G
ENST00000491008.5:n.552C>G
ENST00000491144.5:n.1028C>G
ENST00000498831.1:n.543C>G
NM_003907.2:c.588C>G	NP_003898.2:p.Cys196Trp
XR_924208.1:n.1539C>G
NM_003907.3:c.588C>G MANE Select	NP_003898.2:p.Cys196Trp
XM_011513266.3:c.-314C>G	XP_011511568.1:n.-314C>G
XR_001740352.2:n.951C>G
XR_001740353.2:n.951C>G
XR_924208.2:n.951C>G