Canonical Allele Identifier: CA437146681

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 1146241
• ClinVar RCV Id: RCV001485405
• dbSNP Id: rs1262749952
• gnomAD v2: 3-183856013-T-C
• gnomAD v4: 3-184138225-T-C
• MyVariant Identifiers: chr3:g.183856013T>C (hg19) ; chr3:g.184138225T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138225T>C , CM000665.2:g.184138225T>C	GRCh38
NC_000003.11:g.183856013T>C , CM000665.1:g.183856013T>C	GRCh37
NC_000003.10:g.185338707T>C	NCBI36
NG_015826.1:g.8204T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.767T>C
ENST00000468748.7:n.727T>C
ENST00000484154.2:n.1365T>C
ENST00000491008.6:n.1492T>C
ENST00000492226.2:n.741T>C
ENST00000492773.6:c.498T>C
ENST00000647636.1:c.744T>C	ENSP00000497505.1:p.His248=
ENST00000647909.1:c.768T>C	ENSP00000498164.1:p.His256=
ENST00000648145.1:c.512T>C
ENST00000648189.1:c.494T>C
ENST00000648256.1:c.693T>C	ENSP00000497356.1:p.His231=
ENST00000648314.1:c.744T>C	ENSP00000496920.1:p.His248=
ENST00000648599.1:c.744T>C	ENSP00000497159.1:p.His248=
ENST00000648630.1:c.738T>C	ENSP00000497887.1:p.His246=
ENST00000648682.1:c.744T>C	ENSP00000498185.1:p.His248=
ENST00000648882.1:c.*570T>C	ENSP00000497603.1:n.*570T>C
ENST00000648890.1:c.744T>C	ENSP00000497503.1:p.His248=
ENST00000648915.2:c.744T>C MANE Select	ENSP00000497160.1:p.His248=
ENST00000649545.1:c.478T>C
ENST00000649688.1:c.744T>C	ENSP00000497097.1:p.His248=
ENST00000649814.1:n.793T>C
ENST00000650270.1:c.611T>C
ENST00000273783.7:c.744T>C	ENSP00000273783.3:p.His248=
ENST00000432982.5:c.245+1550T>C
ENST00000444495.1:c.744T>C	ENSP00000409142.1:p.His248=
ENST00000468748.5:n.197T>C
ENST00000479833.1:n.60T>C
ENST00000481054.5:n.745T>C
ENST00000491008.5:n.708T>C
ENST00000491144.5:n.1184T>C
NM_003907.2:c.744T>C	NP_003898.2:p.His248=
XR_924208.1:n.1695T>C
NM_003907.3:c.744T>C MANE Select	NP_003898.2:p.His248=
XM_011513266.3:c.-158T>C	XP_011511568.1:n.-158T>C
XR_001740352.2:n.1107T>C
XR_001740353.2:n.1107T>C
XR_924208.2:n.1107T>C