Canonical Allele Identifier: CA437323877

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183858308C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140520C>A , CM000665.2:g.184140520C>A	GRCh38
NC_000003.11:g.183858308C>A , CM000665.1:g.183858308C>A	GRCh37
NC_000003.10:g.185341002C>A	NCBI36
NG_015826.1:g.10499C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.969C>A
ENST00000468748.7:n.1189C>A
ENST00000484154.2:n.1387-1405C>A
ENST00000491008.6:n.1694C>A
ENST00000492226.2:n.1203C>A
ENST00000492773.6:c.700C>A
ENST00000647636.1:c.946C>A	ENSP00000497505.1:p.Arg316=
ENST00000647909.1:c.970C>A	ENSP00000498164.1:p.Arg324=
ENST00000648145.1:c.714C>A
ENST00000648189.1:c.760C>A
ENST00000648256.1:c.918C>A	ENSP00000497356.1:n.918C>A
ENST00000648314.1:c.*65C>A	ENSP00000496920.1:n.*65C>A
ENST00000648599.1:c.*229C>A	ENSP00000497159.1:n.*229C>A
ENST00000648630.1:c.940C>A	ENSP00000497887.1:p.Arg314=
ENST00000648682.1:c.946C>A	ENSP00000498185.1:p.Arg316=
ENST00000648882.1:c.*772C>A	ENSP00000497603.1:n.*772C>A
ENST00000648890.1:c.946C>A	ENSP00000497503.1:p.Arg316=
ENST00000648915.2:c.946C>A MANE Select	ENSP00000497160.1:p.Arg316=
ENST00000649545.1:c.577+363C>A
ENST00000649688.1:c.*229C>A	ENSP00000497097.1:n.*229C>A
ENST00000649814.1:n.995C>A
ENST00000650270.1:c.813C>A
ENST00000273783.7:c.946C>A	ENSP00000273783.3:p.Arg316=
ENST00000432982.5:c.246-1717C>A
ENST00000444495.1:c.946C>A	ENSP00000409142.1:p.Arg316=
ENST00000468748.5:n.659C>A
ENST00000479833.1:n.262C>A
ENST00000481054.5:n.1040C>A
ENST00000491144.5:n.1450C>A
ENST00000493740.1:n.176C>A
NM_003907.2:c.946C>A	NP_003898.2:p.Arg316=
XM_011513265.1:c.196C>A	XP_011511567.1:p.Arg66=
XM_011513266.1:c.109C>A	XP_011511568.1:p.Arg37=
XR_924208.1:n.1897C>A
NM_003907.3:c.946C>A MANE Select	NP_003898.2:p.Arg316=
XM_011513266.3:c.109C>A	XP_011511568.1:p.Arg37=
XR_001740352.2:n.1309C>A
XR_001740353.2:n.1309C>A
XR_924208.2:n.1309C>A