Canonical Allele Identifier: CA437146604

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855956C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138168C>T , CM000665.2:g.184138168C>T	GRCh38
NC_000003.11:g.183855956C>T , CM000665.1:g.183855956C>T	GRCh37
NC_000003.10:g.185338650C>T	NCBI36
NG_015826.1:g.8147C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.710C>T
ENST00000468748.7:n.670C>T
ENST00000484154.2:n.1308C>T
ENST00000491008.6:n.1435C>T
ENST00000492226.2:n.684C>T
ENST00000492773.6:c.441C>T
ENST00000647636.1:c.687C>T	ENSP00000497505.1:p.Ser229=
ENST00000647909.1:c.711C>T	ENSP00000498164.1:p.Ser237=
ENST00000648145.1:c.455C>T
ENST00000648189.1:c.437C>T
ENST00000648256.1:c.636C>T	ENSP00000497356.1:p.Ser212=
ENST00000648314.1:c.687C>T	ENSP00000496920.1:p.Ser229=
ENST00000648599.1:c.687C>T	ENSP00000497159.1:p.Ser229=
ENST00000648630.1:c.681C>T	ENSP00000497887.1:p.Ser227=
ENST00000648682.1:c.687C>T	ENSP00000498185.1:p.Ser229=
ENST00000648882.1:c.*513C>T	ENSP00000497603.1:n.*513C>T
ENST00000648890.1:c.687C>T	ENSP00000497503.1:p.Ser229=
ENST00000648915.2:c.687C>T MANE Select	ENSP00000497160.1:p.Ser229=
ENST00000649545.1:c.421C>T
ENST00000649688.1:c.687C>T	ENSP00000497097.1:p.Ser229=
ENST00000649814.1:n.736C>T
ENST00000650270.1:c.554C>T
ENST00000273783.7:c.687C>T	ENSP00000273783.3:p.Ser229=
ENST00000432982.5:c.245+1493C>T
ENST00000444495.1:c.687C>T	ENSP00000409142.1:p.Ser229=
ENST00000468748.5:n.140C>T
ENST00000479833.1:n.3C>T
ENST00000481054.5:n.688C>T
ENST00000491008.5:n.651C>T
ENST00000491144.5:n.1127C>T
NM_003907.2:c.687C>T	NP_003898.2:p.Ser229=
XR_924208.1:n.1638C>T
NM_003907.3:c.687C>T MANE Select	NP_003898.2:p.Ser229=
XM_011513266.3:c.-215C>T	XP_011511568.1:n.-215C>T
XR_001740352.2:n.1050C>T
XR_001740353.2:n.1050C>T
XR_924208.2:n.1050C>T