Canonical Allele Identifier: CA355384531

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184140417-G-C
• MyVariant Identifiers: chr3:g.183858205G>C (hg19) ; chr3:g.184140417G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140417G>C , CM000665.2:g.184140417G>C	GRCh38
NC_000003.11:g.183858205G>C , CM000665.1:g.183858205G>C	GRCh37
NC_000003.10:g.185340899G>C	NCBI36
NG_015826.1:g.10396G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.867-1G>C
ENST00000468748.7:n.1086G>C
ENST00000484154.2:n.1387-1508G>C
ENST00000491008.6:n.1592-1G>C
ENST00000492226.2:n.1100G>C
ENST00000492773.6:c.598-1G>C
ENST00000647636.1:c.844-1G>C	ENSP00000497505.1:n.844-1G>C
ENST00000647909.1:c.868-1G>C	ENSP00000498164.1:n.868-1G>C
ENST00000648145.1:c.612-1G>C
ENST00000648189.1:c.658-1G>C
ENST00000648256.1:c.816-1G>C	ENSP00000497356.1:n.816-1G>C
ENST00000648314.1:c.908-1G>C	ENSP00000496920.1:n.908-1G>C
ENST00000648599.1:c.*127-1G>C	ENSP00000497159.1:n.*127-1G>C
ENST00000648630.1:c.838-1G>C	ENSP00000497887.1:n.838-1G>C
ENST00000648682.1:c.844-1G>C	ENSP00000498185.1:n.844-1G>C
ENST00000648882.1:c.*670-1G>C	ENSP00000497603.1:n.*670-1G>C
ENST00000648890.1:c.844-1G>C	ENSP00000497503.1:n.844-1G>C
ENST00000648915.2:c.844-1G>C MANE Select	ENSP00000497160.1:n.844-1G>C
ENST00000649545.1:c.577+260G>C
ENST00000649688.1:c.*127-1G>C	ENSP00000497097.1:n.*127-1G>C
ENST00000649814.1:n.893-1G>C
ENST00000650270.1:c.711-1G>C
ENST00000273783.7:c.844-1G>C	ENSP00000273783.3:n.844-1G>C
ENST00000432982.5:c.246-1820G>C
ENST00000444495.1:c.844-1G>C	ENSP00000409142.1:n.844-1G>C
ENST00000468748.5:n.556G>C
ENST00000479833.1:n.160-1G>C
ENST00000481054.5:n.938-1G>C
ENST00000491144.5:n.1348-1G>C
ENST00000493740.1:n.74-1G>C
NM_003907.2:c.844-1G>C	NP_003898.2:n.844-1G>C
XM_011513265.1:c.94-1G>C	XP_011511567.1:n.94-1G>C
XM_011513266.1:c.7-1G>C	XP_011511568.1:n.7-1G>C
XR_924208.1:n.1795-1G>C
NM_003907.3:c.844-1G>C MANE Select	NP_003898.2:n.844-1G>C
XM_011513266.3:c.7-1G>C	XP_011511568.1:n.7-1G>C
XR_001740352.2:n.1207-1G>C
XR_001740353.2:n.1207-1G>C
XR_924208.2:n.1207-1G>C