Canonical Allele Identifier: CA355387095

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183859800A>T (hg19) ; chr3:g.184142012A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184142012A>T , CM000665.2:g.184142012A>T	GRCh38
NC_000003.11:g.183859800A>T , CM000665.1:g.183859800A>T	GRCh37
NC_000003.10:g.185342494A>T	NCBI36
NG_015826.1:g.11991A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1267A>T
ENST00000468748.7:n.1487A>T
ENST00000484154.2:n.1474A>T
ENST00000491008.6:n.1992A>T
ENST00000492226.2:n.1511A>T
ENST00000492773.6:c.998A>T
ENST00000647636.1:c.*93A>T	ENSP00000497505.1:n.*93A>T
ENST00000647909.1:c.1268A>T	ENSP00000498164.1:p.Asp423Val
ENST00000648145.1:c.1016A>T
ENST00000648189.1:c.1062A>T
ENST00000648256.1:c.1216A>T	ENSP00000497356.1:n.1216A>T
ENST00000648314.1:c.*363A>T	ENSP00000496920.1:n.*363A>T
ENST00000648599.1:c.*527A>T	ENSP00000497159.1:n.*527A>T
ENST00000648630.1:c.1123A>T	ENSP00000497887.1:p.Thr375Ser
ENST00000648682.1:c.*84A>T	ENSP00000498185.1:n.*84A>T
ENST00000648882.1:c.*1070A>T	ENSP00000497603.1:n.*1070A>T
ENST00000648890.1:c.1244A>T	ENSP00000497503.1:p.Asp415Val
ENST00000648915.2:c.1244A>T MANE Select	ENSP00000497160.1:p.Asp415Val
ENST00000649545.1:c.665A>T
ENST00000649688.1:c.*537A>T	ENSP00000497097.1:n.*537A>T
ENST00000649814.1:n.1293A>T
ENST00000650270.1:c.1111A>T
ENST00000273783.7:c.1244A>T	ENSP00000273783.3:p.Asp415Val
ENST00000432982.5:c.246-225A>T
ENST00000444495.1:c.1244A>T	ENSP00000409142.1:p.Asp415Val
ENST00000479833.1:n.445A>T
ENST00000481054.5:n.1338A>T
ENST00000491144.5:n.1748A>T
ENST00000492773.5:n.127A>T
NM_003907.2:c.1244A>T	NP_003898.2:p.Asp415Val
XM_011513265.1:c.494A>T	XP_011511567.1:p.Asp165Val
XM_011513266.1:c.407A>T	XP_011511568.1:p.Asp136Val
XR_924208.1:n.2195A>T
NM_003907.3:c.1244A>T MANE Select	NP_003898.2:p.Asp415Val
XM_011513266.3:c.407A>T	XP_011511568.1:p.Asp136Val
XR_001740352.2:n.1607A>T
XR_001740353.2:n.1607A>T
XR_924208.2:n.1607A>T