Canonical Allele Identifier: CA437323273

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 1122006
• ClinVar RCV Id: RCV001452498
• dbSNP Id: rs2109006897
• gnomAD v4: 3-184137638-C-T
• MyVariant Identifiers: chr3:g.183855426C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137638C>T , CM000665.2:g.184137638C>T	GRCh38
NC_000003.11:g.183855426C>T , CM000665.1:g.183855426C>T	GRCh37
NC_000003.10:g.185338120C>T	NCBI36
NG_015826.1:g.7617C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.362C>T
ENST00000468748.7:n.322C>T
ENST00000484154.2:n.960C>T
ENST00000491008.6:n.1087C>T
ENST00000492226.2:n.336C>T
ENST00000492773.6:c.71C>T
ENST00000647636.1:c.339C>T	ENSP00000497505.1:p.Arg113=
ENST00000647909.1:c.339C>T	ENSP00000498164.1:p.Arg113=
ENST00000648145.1:c.107C>T
ENST00000648189.1:c.89C>T
ENST00000648256.1:c.288C>T	ENSP00000497356.1:p.Arg96=
ENST00000648314.1:c.339C>T	ENSP00000496920.1:p.Arg113=
ENST00000648599.1:c.339C>T	ENSP00000497159.1:p.Arg113=
ENST00000648630.1:c.333C>T	ENSP00000497887.1:p.Arg111=
ENST00000648682.1:c.339C>T	ENSP00000498185.1:p.Arg113=
ENST00000648882.1:c.*165C>T	ENSP00000497603.1:n.*165C>T
ENST00000648890.1:c.339C>T	ENSP00000497503.1:p.Arg113=
ENST00000648915.2:c.339C>T MANE Select	ENSP00000497160.1:p.Arg113=
ENST00000649545.1:c.73C>T
ENST00000649688.1:c.339C>T	ENSP00000497097.1:p.Arg113=
ENST00000649814.1:n.388C>T
ENST00000650244.1:c.484C>T	ENSP00000497227.1:n.484C>T
ENST00000650270.1:c.206C>T
ENST00000273783.7:c.339C>T	ENSP00000273783.3:p.Arg113=
ENST00000432982.5:c.245+963C>T
ENST00000444495.1:c.339C>T	ENSP00000409142.1:p.Arg113=
ENST00000481054.5:n.340C>T
ENST00000491008.5:n.303C>T
ENST00000491144.5:n.687C>T
ENST00000498831.1:n.294C>T
NM_003907.2:c.339C>T	NP_003898.2:p.Arg113=
XR_924208.1:n.1290C>T
NM_003907.3:c.339C>T MANE Select	NP_003898.2:p.Arg113=
XM_011513266.3:c.-563C>T	XP_011511568.1:n.-563C>T
XR_001740352.2:n.702C>T
XR_001740353.2:n.702C>T
XR_924208.2:n.702C>T