Canonical Allele Identifier: CA437323745

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183858211A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140423A>C , CM000665.2:g.184140423A>C	GRCh38
NC_000003.11:g.183858211A>C , CM000665.1:g.183858211A>C	GRCh37
NC_000003.10:g.185340905A>C	NCBI36
NG_015826.1:g.10402A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.872A>C
ENST00000468748.7:n.1092A>C
ENST00000484154.2:n.1387-1502A>C
ENST00000491008.6:n.1597A>C
ENST00000492226.2:n.1106A>C
ENST00000492773.6:c.603A>C
ENST00000647636.1:c.849A>C	ENSP00000497505.1:p.Leu283=
ENST00000647909.1:c.873A>C	ENSP00000498164.1:p.Leu291=
ENST00000648145.1:c.617A>C
ENST00000648189.1:c.663A>C
ENST00000648256.1:c.821A>C	ENSP00000497356.1:n.821A>C
ENST00000648314.1:c.913A>C	ENSP00000496920.1:p.Arg305=
ENST00000648599.1:c.*132A>C	ENSP00000497159.1:n.*132A>C
ENST00000648630.1:c.843A>C	ENSP00000497887.1:p.Leu281=
ENST00000648682.1:c.849A>C	ENSP00000498185.1:p.Leu283=
ENST00000648882.1:c.*675A>C	ENSP00000497603.1:n.*675A>C
ENST00000648890.1:c.849A>C	ENSP00000497503.1:p.Leu283=
ENST00000648915.2:c.849A>C MANE Select	ENSP00000497160.1:p.Leu283=
ENST00000649545.1:c.577+266A>C
ENST00000649688.1:c.*132A>C	ENSP00000497097.1:n.*132A>C
ENST00000649814.1:n.898A>C
ENST00000650270.1:c.716A>C
ENST00000273783.7:c.849A>C	ENSP00000273783.3:p.Leu283=
ENST00000432982.5:c.246-1814A>C
ENST00000444495.1:c.849A>C	ENSP00000409142.1:p.Leu283=
ENST00000468748.5:n.562A>C
ENST00000479833.1:n.165A>C
ENST00000481054.5:n.943A>C
ENST00000491144.5:n.1353A>C
ENST00000493740.1:n.79A>C
NM_003907.2:c.849A>C	NP_003898.2:p.Leu283=
XM_011513265.1:c.99A>C	XP_011511567.1:p.Leu33=
XM_011513266.1:c.12A>C	XP_011511568.1:p.Leu4=
XR_924208.1:n.1800A>C
NM_003907.3:c.849A>C MANE Select	NP_003898.2:p.Leu283=
XM_011513266.3:c.12A>C	XP_011511568.1:p.Leu4=
XR_001740352.2:n.1212A>C
XR_001740353.2:n.1212A>C
XR_924208.2:n.1212A>C