Canonical Allele Identifier: CA355386658

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183859728T>C (hg19) ; chr3:g.184141940T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184141940T>C , CM000665.2:g.184141940T>C	GRCh38
NC_000003.11:g.183859728T>C , CM000665.1:g.183859728T>C	GRCh37
NC_000003.10:g.185342422T>C	NCBI36
NG_015826.1:g.11919T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1195T>C
ENST00000468748.7:n.1415T>C
ENST00000484154.2:n.1402T>C
ENST00000491008.6:n.1920T>C
ENST00000492226.2:n.1439T>C
ENST00000492773.6:c.926T>C
ENST00000647636.1:c.*21T>C	ENSP00000497505.1:n.*21T>C
ENST00000647909.1:c.1196T>C	ENSP00000498164.1:p.Leu399Pro
ENST00000648145.1:c.944T>C
ENST00000648189.1:c.990T>C
ENST00000648256.1:c.1144T>C	ENSP00000497356.1:n.1144T>C
ENST00000648314.1:c.*291T>C	ENSP00000496920.1:n.*291T>C
ENST00000648599.1:c.*455T>C	ENSP00000497159.1:n.*455T>C
ENST00000648630.1:c.1051T>C	ENSP00000497887.1:p.Trp351Arg
ENST00000648682.1:c.*12T>C	ENSP00000498185.1:n.*12T>C
ENST00000648882.1:c.*998T>C	ENSP00000497603.1:n.*998T>C
ENST00000648890.1:c.1172T>C	ENSP00000497503.1:p.Leu391Pro
ENST00000648915.2:c.1172T>C MANE Select	ENSP00000497160.1:p.Leu391Pro
ENST00000649545.1:c.593T>C
ENST00000649688.1:c.*465T>C	ENSP00000497097.1:n.*465T>C
ENST00000649814.1:n.1221T>C
ENST00000650270.1:c.1039T>C
ENST00000273783.7:c.1172T>C	ENSP00000273783.3:p.Leu391Pro
ENST00000432982.5:c.246-297T>C
ENST00000444495.1:c.1172T>C	ENSP00000409142.1:p.Leu391Pro
ENST00000479833.1:n.373T>C
ENST00000481054.5:n.1266T>C
ENST00000491144.5:n.1676T>C
ENST00000492773.5:n.55T>C
NM_003907.2:c.1172T>C	NP_003898.2:p.Leu391Pro
XM_011513265.1:c.422T>C	XP_011511567.1:p.Leu141Pro
XM_011513266.1:c.335T>C	XP_011511568.1:p.Leu112Pro
XR_924208.1:n.2123T>C
NM_003907.3:c.1172T>C MANE Select	NP_003898.2:p.Leu391Pro
XM_011513266.3:c.335T>C	XP_011511568.1:p.Leu112Pro
XR_001740352.2:n.1535T>C
XR_001740353.2:n.1535T>C
XR_924208.2:n.1535T>C