Canonical Allele Identifier: CA437323761

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183858223C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140435C>T , CM000665.2:g.184140435C>T	GRCh38
NC_000003.11:g.183858223C>T , CM000665.1:g.183858223C>T	GRCh37
NC_000003.10:g.185340917C>T	NCBI36
NG_015826.1:g.10414C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.884C>T
ENST00000468748.7:n.1104C>T
ENST00000484154.2:n.1387-1490C>T
ENST00000491008.6:n.1609C>T
ENST00000492226.2:n.1118C>T
ENST00000492773.6:c.615C>T
ENST00000647636.1:c.861C>T	ENSP00000497505.1:p.Ile287=
ENST00000647909.1:c.885C>T	ENSP00000498164.1:p.Ile295=
ENST00000648145.1:c.629C>T
ENST00000648189.1:c.675C>T
ENST00000648256.1:c.833C>T	ENSP00000497356.1:n.833C>T
ENST00000648314.1:c.925C>T	ENSP00000496920.1:p.Pro309Ser
ENST00000648599.1:c.*144C>T	ENSP00000497159.1:n.*144C>T
ENST00000648630.1:c.855C>T	ENSP00000497887.1:p.Ile285=
ENST00000648682.1:c.861C>T	ENSP00000498185.1:p.Ile287=
ENST00000648882.1:c.*687C>T	ENSP00000497603.1:n.*687C>T
ENST00000648890.1:c.861C>T	ENSP00000497503.1:p.Ile287=
ENST00000648915.2:c.861C>T MANE Select	ENSP00000497160.1:p.Ile287=
ENST00000649545.1:c.577+278C>T
ENST00000649688.1:c.*144C>T	ENSP00000497097.1:n.*144C>T
ENST00000649814.1:n.910C>T
ENST00000650270.1:c.728C>T
ENST00000273783.7:c.861C>T	ENSP00000273783.3:p.Ile287=
ENST00000432982.5:c.246-1802C>T
ENST00000444495.1:c.861C>T	ENSP00000409142.1:p.Ile287=
ENST00000468748.5:n.574C>T
ENST00000479833.1:n.177C>T
ENST00000481054.5:n.955C>T
ENST00000491144.5:n.1365C>T
ENST00000493740.1:n.91C>T
NM_003907.2:c.861C>T	NP_003898.2:p.Ile287=
XM_011513265.1:c.111C>T	XP_011511567.1:p.Ile37=
XM_011513266.1:c.24C>T	XP_011511568.1:p.Ile8=
XR_924208.1:n.1812C>T
NM_003907.3:c.861C>T MANE Select	NP_003898.2:p.Ile287=
XM_011513266.3:c.24C>T	XP_011511568.1:p.Ile8=
XR_001740352.2:n.1224C>T
XR_001740353.2:n.1224C>T
XR_924208.2:n.1224C>T