Canonical Allele Identifier: CA437147743

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1713652130
• MyVariant Identifiers: chr3:g.183859727C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184141939C>T , CM000665.2:g.184141939C>T	GRCh38
NC_000003.11:g.183859727C>T , CM000665.1:g.183859727C>T	GRCh37
NC_000003.10:g.185342421C>T	NCBI36
NG_015826.1:g.11918C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1194C>T
ENST00000468748.7:n.1414C>T
ENST00000484154.2:n.1401C>T
ENST00000491008.6:n.1919C>T
ENST00000492226.2:n.1438C>T
ENST00000492773.6:c.925C>T
ENST00000647636.1:c.*20C>T	ENSP00000497505.1:n.*20C>T
ENST00000647909.1:c.1195C>T	ENSP00000498164.1:p.Leu399=
ENST00000648145.1:c.943C>T
ENST00000648189.1:c.989C>T
ENST00000648256.1:c.1143C>T	ENSP00000497356.1:n.1143C>T
ENST00000648314.1:c.*290C>T	ENSP00000496920.1:n.*290C>T
ENST00000648599.1:c.*454C>T	ENSP00000497159.1:n.*454C>T
ENST00000648630.1:c.1050C>T	ENSP00000497887.1:p.Cys350=
ENST00000648682.1:c.*11C>T	ENSP00000498185.1:n.*11C>T
ENST00000648882.1:c.*997C>T	ENSP00000497603.1:n.*997C>T
ENST00000648890.1:c.1171C>T	ENSP00000497503.1:p.Leu391=
ENST00000648915.2:c.1171C>T MANE Select	ENSP00000497160.1:p.Leu391=
ENST00000649545.1:c.592C>T
ENST00000649688.1:c.*464C>T	ENSP00000497097.1:n.*464C>T
ENST00000649814.1:n.1220C>T
ENST00000650270.1:c.1038C>T
ENST00000273783.7:c.1171C>T	ENSP00000273783.3:p.Leu391=
ENST00000432982.5:c.246-298C>T
ENST00000444495.1:c.1171C>T	ENSP00000409142.1:p.Leu391=
ENST00000479833.1:n.372C>T
ENST00000481054.5:n.1265C>T
ENST00000491144.5:n.1675C>T
ENST00000492773.5:n.54C>T
NM_003907.2:c.1171C>T	NP_003898.2:p.Leu391=
XM_011513265.1:c.421C>T	XP_011511567.1:p.Leu141=
XM_011513266.1:c.334C>T	XP_011511568.1:p.Leu112=
XR_924208.1:n.2122C>T
NM_003907.3:c.1171C>T MANE Select	NP_003898.2:p.Leu391=
XM_011513266.3:c.334C>T	XP_011511568.1:p.Leu112=
XR_001740352.2:n.1534C>T
XR_001740353.2:n.1534C>T
XR_924208.2:n.1534C>T