Canonical Allele Identifier: CA2668797727

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184140202-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140202T>C , CM000665.2:g.184140202T>C	GRCh38
NC_000003.11:g.183857990T>C , CM000665.1:g.183857990T>C	GRCh37
NC_000003.10:g.185340684T>C	NCBI36
NG_015826.1:g.10181T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.866+45T>C
ENST00000468748.7:n.871T>C
ENST00000484154.2:n.1387-1723T>C
ENST00000491008.6:n.1591+45T>C
ENST00000492226.2:n.885T>C
ENST00000492773.6:c.597+45T>C
ENST00000647636.1:c.843+45T>C	ENSP00000497505.1:n.843+45T>C
ENST00000647909.1:c.867+45T>C	ENSP00000498164.1:n.867+45T>C
ENST00000648145.1:c.611+45T>C
ENST00000648189.1:c.638T>C
ENST00000648256.1:c.815+45T>C	ENSP00000497356.1:n.815+45T>C
ENST00000648314.1:c.888T>C	ENSP00000496920.1:p.Ala296=
ENST00000648599.1:c.*126+45T>C	ENSP00000497159.1:n.*126+45T>C
ENST00000648630.1:c.837+45T>C	ENSP00000497887.1:n.837+45T>C
ENST00000648682.1:c.843+45T>C	ENSP00000498185.1:n.843+45T>C
ENST00000648882.1:c.*669+45T>C	ENSP00000497603.1:n.*669+45T>C
ENST00000648890.1:c.843+45T>C	ENSP00000497503.1:n.843+45T>C
ENST00000648915.2:c.843+45T>C MANE Select	ENSP00000497160.1:n.843+45T>C
ENST00000649545.1:c.577+45T>C
ENST00000649688.1:c.*126+45T>C	ENSP00000497097.1:n.*126+45T>C
ENST00000649814.1:n.892+45T>C
ENST00000650270.1:c.710+45T>C
ENST00000273783.7:c.843+45T>C	ENSP00000273783.3:n.843+45T>C
ENST00000432982.5:c.246-2035T>C
ENST00000444495.1:c.843+45T>C	ENSP00000409142.1:n.843+45T>C
ENST00000468748.5:n.341T>C
ENST00000479833.1:n.159+45T>C
ENST00000481054.5:n.937+45T>C
ENST00000491144.5:n.1328T>C
ENST00000493740.1:n.54T>C
NM_003907.2:c.843+45T>C	NP_003898.2:n.843+45T>C
XM_011513265.1:c.93+45T>C	XP_011511567.1:n.93+45T>C
XM_011513266.1:c.-14T>C	XP_011511568.1:n.-14T>C
XR_924208.1:n.1794+45T>C
NM_003907.3:c.843+45T>C MANE Select	NP_003898.2:n.843+45T>C
XM_011513266.3:c.-14T>C	XP_011511568.1:n.-14T>C
XR_001740352.2:n.1206+45T>C
XR_001740353.2:n.1206+45T>C
XR_924208.2:n.1206+45T>C