Canonical Allele Identifier: CA355382830

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855958T>C (hg19) ; chr3:g.184138170T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138170T>C , CM000665.2:g.184138170T>C	GRCh38
NC_000003.11:g.183855958T>C , CM000665.1:g.183855958T>C	GRCh37
NC_000003.10:g.185338652T>C	NCBI36
NG_015826.1:g.8149T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.712T>C
ENST00000468748.7:n.672T>C
ENST00000484154.2:n.1310T>C
ENST00000491008.6:n.1437T>C
ENST00000492226.2:n.686T>C
ENST00000492773.6:c.443T>C
ENST00000647636.1:c.689T>C	ENSP00000497505.1:p.Leu230Pro
ENST00000647909.1:c.713T>C	ENSP00000498164.1:p.Leu238Pro
ENST00000648145.1:c.457T>C
ENST00000648189.1:c.439T>C
ENST00000648256.1:c.638T>C	ENSP00000497356.1:p.Leu213Pro
ENST00000648314.1:c.689T>C	ENSP00000496920.1:p.Leu230Pro
ENST00000648599.1:c.689T>C	ENSP00000497159.1:p.Leu230Pro
ENST00000648630.1:c.683T>C	ENSP00000497887.1:p.Leu228Pro
ENST00000648682.1:c.689T>C	ENSP00000498185.1:p.Leu230Pro
ENST00000648882.1:c.*515T>C	ENSP00000497603.1:n.*515T>C
ENST00000648890.1:c.689T>C	ENSP00000497503.1:p.Leu230Pro
ENST00000648915.2:c.689T>C MANE Select	ENSP00000497160.1:p.Leu230Pro
ENST00000649545.1:c.423T>C
ENST00000649688.1:c.689T>C	ENSP00000497097.1:p.Leu230Pro
ENST00000649814.1:n.738T>C
ENST00000650270.1:c.556T>C
ENST00000273783.7:c.689T>C	ENSP00000273783.3:p.Leu230Pro
ENST00000432982.5:c.245+1495T>C
ENST00000444495.1:c.689T>C	ENSP00000409142.1:p.Leu230Pro
ENST00000468748.5:n.142T>C
ENST00000479833.1:n.5T>C
ENST00000481054.5:n.690T>C
ENST00000491008.5:n.653T>C
ENST00000491144.5:n.1129T>C
NM_003907.2:c.689T>C	NP_003898.2:p.Leu230Pro
XR_924208.1:n.1640T>C
NM_003907.3:c.689T>C MANE Select	NP_003898.2:p.Leu230Pro
XM_011513266.3:c.-213T>C	XP_011511568.1:n.-213T>C
XR_001740352.2:n.1052T>C
XR_001740353.2:n.1052T>C
XR_924208.2:n.1052T>C