Canonical Allele Identifier: CA437323358

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855472C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137684C>A , CM000665.2:g.184137684C>A	GRCh38
NC_000003.11:g.183855472C>A , CM000665.1:g.183855472C>A	GRCh37
NC_000003.10:g.185338166C>A	NCBI36
NG_015826.1:g.7663C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.408C>A
ENST00000468748.7:n.368C>A
ENST00000484154.2:n.1006C>A
ENST00000491008.6:n.1133C>A
ENST00000492226.2:n.382C>A
ENST00000492773.6:c.117C>A
ENST00000647636.1:c.385C>A	ENSP00000497505.1:p.Arg129=
ENST00000647909.1:c.385C>A	ENSP00000498164.1:p.Arg129=
ENST00000648145.1:c.153C>A
ENST00000648189.1:c.135C>A
ENST00000648256.1:c.334C>A	ENSP00000497356.1:p.Arg112=
ENST00000648314.1:c.385C>A	ENSP00000496920.1:p.Arg129=
ENST00000648599.1:c.385C>A	ENSP00000497159.1:p.Arg129=
ENST00000648630.1:c.379C>A	ENSP00000497887.1:p.Arg127=
ENST00000648682.1:c.385C>A	ENSP00000498185.1:p.Arg129=
ENST00000648882.1:c.*211C>A	ENSP00000497603.1:n.*211C>A
ENST00000648890.1:c.385C>A	ENSP00000497503.1:p.Arg129=
ENST00000648915.2:c.385C>A MANE Select	ENSP00000497160.1:p.Arg129=
ENST00000649545.1:c.119C>A
ENST00000649688.1:c.385C>A	ENSP00000497097.1:p.Arg129=
ENST00000649814.1:n.434C>A
ENST00000650244.1:c.530C>A	ENSP00000497227.1:n.530C>A
ENST00000650270.1:c.252C>A
ENST00000273783.7:c.385C>A	ENSP00000273783.3:p.Arg129=
ENST00000432982.5:c.245+1009C>A
ENST00000444495.1:c.385C>A	ENSP00000409142.1:p.Arg129=
ENST00000481054.5:n.386C>A
ENST00000491008.5:n.349C>A
ENST00000491144.5:n.733C>A
ENST00000498831.1:n.340C>A
NM_003907.2:c.385C>A	NP_003898.2:p.Arg129=
XR_924208.1:n.1336C>A
NM_003907.3:c.385C>A MANE Select	NP_003898.2:p.Arg129=
XM_011513266.3:c.-517C>A	XP_011511568.1:n.-517C>A
XR_001740352.2:n.748C>A
XR_001740353.2:n.748C>A
XR_924208.2:n.748C>A