Canonical Allele Identifier: CA88842902

Gene: EIF2B5

Linked Data

• dbSNP Id: rs763615769
• gnomAD v4: 3-184140610-C-T
• MyVariant Identifiers: chr3:g.183858398C>T (hg19) ; chr3:g.184140610C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140610C>T , CM000665.2:g.184140610C>T	GRCh38
NC_000003.11:g.183858398C>T , CM000665.1:g.183858398C>T	GRCh37
NC_000003.10:g.185341092C>T	NCBI36
NG_015826.1:g.10589C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1059C>T
ENST00000468748.7:n.1279C>T
ENST00000484154.2:n.1387-1315C>T
ENST00000491008.6:n.1784C>T
ENST00000492226.2:n.1293C>T
ENST00000492773.6:c.790C>T
ENST00000647636.1:c.1036C>T	ENSP00000497505.1:p.Pro346Ser
ENST00000647909.1:c.1060C>T	ENSP00000498164.1:p.Pro354Ser
ENST00000648145.1:c.804C>T
ENST00000648189.1:c.850C>T
ENST00000648256.1:c.1008C>T	ENSP00000497356.1:n.1008C>T
ENST00000648314.1:c.*155C>T	ENSP00000496920.1:n.*155C>T
ENST00000648599.1:c.*319C>T	ENSP00000497159.1:n.*319C>T
ENST00000648630.1:c.1030C>T	ENSP00000497887.1:p.Pro344Ser
ENST00000648682.1:c.1036C>T	ENSP00000498185.1:p.Pro346Ser
ENST00000648882.1:c.*862C>T	ENSP00000497603.1:n.*862C>T
ENST00000648890.1:c.1036C>T	ENSP00000497503.1:p.Pro346Ser
ENST00000648915.2:c.1036C>T MANE Select	ENSP00000497160.1:p.Pro346Ser
ENST00000649545.1:c.577+453C>T
ENST00000649688.1:c.*319C>T	ENSP00000497097.1:n.*319C>T
ENST00000649814.1:n.1085C>T
ENST00000650270.1:c.903C>T
ENST00000273783.7:c.1036C>T	ENSP00000273783.3:p.Pro346Ser
ENST00000432982.5:c.246-1627C>T
ENST00000444495.1:c.1036C>T	ENSP00000409142.1:p.Pro346Ser
ENST00000479833.1:n.352C>T
ENST00000481054.5:n.1130C>T
ENST00000491144.5:n.1540C>T
ENST00000493740.1:n.266C>T
NM_003907.2:c.1036C>T	NP_003898.2:p.Pro346Ser
XM_011513265.1:c.286C>T	XP_011511567.1:p.Pro96Ser
XM_011513266.1:c.199C>T	XP_011511568.1:p.Pro67Ser
XR_924208.1:n.1987C>T
NM_003907.3:c.1036C>T MANE Select	NP_003898.2:p.Pro346Ser
XM_011513266.3:c.199C>T	XP_011511568.1:p.Pro67Ser
XR_001740352.2:n.1399C>T
XR_001740353.2:n.1399C>T
XR_924208.2:n.1399C>T