Canonical Allele Identifier: CA437147737

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183859714T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184141926T>C , CM000665.2:g.184141926T>C	GRCh38
NC_000003.11:g.183859714T>C , CM000665.1:g.183859714T>C	GRCh37
NC_000003.10:g.185342408T>C	NCBI36
NG_015826.1:g.11905T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1181T>C
ENST00000468748.7:n.1401T>C
ENST00000484154.2:n.1388T>C
ENST00000491008.6:n.1906T>C
ENST00000492226.2:n.1425T>C
ENST00000492773.6:c.912T>C
ENST00000647636.1:c.*7T>C	ENSP00000497505.1:n.*7T>C
ENST00000647909.1:c.1182T>C	ENSP00000498164.1:p.Gly394=
ENST00000648145.1:c.930T>C
ENST00000648189.1:c.976T>C
ENST00000648256.1:c.1130T>C	ENSP00000497356.1:n.1130T>C
ENST00000648314.1:c.*277T>C	ENSP00000496920.1:n.*277T>C
ENST00000648599.1:c.*441T>C	ENSP00000497159.1:n.*441T>C
ENST00000648630.1:c.1037T>C	ENSP00000497887.1:p.Val346Ala
ENST00000648682.1:c.1168T>C	ENSP00000498185.1:p.Ter390Arg
ENST00000648882.1:c.*984T>C	ENSP00000497603.1:n.*984T>C
ENST00000648890.1:c.1158T>C	ENSP00000497503.1:p.Gly386=
ENST00000648915.2:c.1158T>C MANE Select	ENSP00000497160.1:p.Gly386=
ENST00000649545.1:c.579T>C
ENST00000649688.1:c.*451T>C	ENSP00000497097.1:n.*451T>C
ENST00000649814.1:n.1207T>C
ENST00000650270.1:c.1025T>C
ENST00000273783.7:c.1158T>C	ENSP00000273783.3:p.Gly386=
ENST00000432982.5:c.246-311T>C
ENST00000444495.1:c.1158T>C	ENSP00000409142.1:p.Gly386=
ENST00000479833.1:n.359T>C
ENST00000481054.5:n.1252T>C
ENST00000491144.5:n.1662T>C
ENST00000492773.5:n.41T>C
NM_003907.2:c.1158T>C	NP_003898.2:p.Gly386=
XM_011513265.1:c.408T>C	XP_011511567.1:p.Gly136=
XM_011513266.1:c.321T>C	XP_011511568.1:p.Gly107=
XR_924208.1:n.2109T>C
NM_003907.3:c.1158T>C MANE Select	NP_003898.2:p.Gly386=
XM_011513266.3:c.321T>C	XP_011511568.1:p.Gly107=
XR_001740352.2:n.1521T>C
XR_001740353.2:n.1521T>C
XR_924208.2:n.1521T>C