Canonical Allele Identifier: CA88843465

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1010844533
• gnomAD v2: 3-183860072-T-C
• gnomAD v4: 3-184142284-T-C
• MyVariant Identifiers: chr3:g.183860072T>C (hg19) ; chr3:g.184142284T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184142284T>C , CM000665.2:g.184142284T>C	GRCh38
NC_000003.11:g.183860072T>C , CM000665.1:g.183860072T>C	GRCh37
NC_000003.10:g.185342766T>C	NCBI36
NG_015826.1:g.12263T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1373T>C
ENST00000468748.7:n.1593T>C
ENST00000484154.2:n.1580T>C
ENST00000491008.6:n.2098T>C
ENST00000492226.2:n.1617T>C
ENST00000492773.6:c.1104T>C
ENST00000647636.1:c.*199T>C	ENSP00000497505.1:n.*199T>C
ENST00000647909.1:c.1374T>C	ENSP00000498164.1:p.Ser458=
ENST00000648145.1:c.1122T>C
ENST00000648189.1:c.1168T>C
ENST00000648256.1:c.1322T>C	ENSP00000497356.1:n.1322T>C
ENST00000648314.1:c.*469T>C	ENSP00000496920.1:n.*469T>C
ENST00000648599.1:c.*633T>C	ENSP00000497159.1:n.*633T>C
ENST00000648630.1:c.1229T>C	ENSP00000497887.1:n.1229T>C
ENST00000648682.1:c.*190T>C	ENSP00000498185.1:n.*190T>C
ENST00000648882.1:c.*1176T>C	ENSP00000497603.1:n.*1176T>C
ENST00000648890.1:c.1350T>C	ENSP00000497503.1:p.Ser450=
ENST00000648915.2:c.1350T>C MANE Select	ENSP00000497160.1:p.Ser450=
ENST00000649545.1:c.724-14T>C
ENST00000649688.1:c.*643T>C	ENSP00000497097.1:n.*643T>C
ENST00000649814.1:n.1399T>C
ENST00000650270.1:c.1217T>C
ENST00000273783.7:c.1350T>C	ENSP00000273783.3:p.Ser450=
ENST00000432982.5:c.293T>C
ENST00000444495.1:c.1350T>C	ENSP00000409142.1:p.Ser450=
ENST00000479250.1:n.177T>C
ENST00000481054.5:n.1444T>C
ENST00000491144.5:n.1854T>C
ENST00000492773.5:n.233T>C
NM_003907.2:c.1350T>C	NP_003898.2:p.Ser450=
XM_011513265.1:c.600T>C	XP_011511567.1:p.Ser200=
XM_011513266.1:c.513T>C	XP_011511568.1:p.Ser171=
XR_924208.1:n.2301T>C
NM_003907.3:c.1350T>C MANE Select	NP_003898.2:p.Ser450=
XM_011513266.3:c.513T>C	XP_011511568.1:p.Ser171=
XR_001740352.2:n.1713T>C
XR_001740353.2:n.1713T>C
XR_924208.2:n.1713T>C