Canonical Allele Identifier: CA355389535

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183860067A>C (hg19) ; chr3:g.184142279A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184142279A>C , CM000665.2:g.184142279A>C	GRCh38
NC_000003.11:g.183860067A>C , CM000665.1:g.183860067A>C	GRCh37
NC_000003.10:g.185342761A>C	NCBI36
NG_015826.1:g.12258A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1368A>C
ENST00000468748.7:n.1588A>C
ENST00000484154.2:n.1575A>C
ENST00000491008.6:n.2093A>C
ENST00000492226.2:n.1612A>C
ENST00000492773.6:c.1099A>C
ENST00000647636.1:c.*194A>C	ENSP00000497505.1:n.*194A>C
ENST00000647909.1:c.1369A>C	ENSP00000498164.1:p.Ile457Leu
ENST00000648145.1:c.1117A>C
ENST00000648189.1:c.1163A>C
ENST00000648256.1:c.1317A>C	ENSP00000497356.1:n.1317A>C
ENST00000648314.1:c.*464A>C	ENSP00000496920.1:n.*464A>C
ENST00000648599.1:c.*628A>C	ENSP00000497159.1:n.*628A>C
ENST00000648630.1:c.1224A>C	ENSP00000497887.1:n.1224A>C
ENST00000648682.1:c.*185A>C	ENSP00000498185.1:n.*185A>C
ENST00000648882.1:c.*1171A>C	ENSP00000497603.1:n.*1171A>C
ENST00000648890.1:c.1345A>C	ENSP00000497503.1:p.Ile449Leu
ENST00000648915.2:c.1345A>C MANE Select	ENSP00000497160.1:p.Ile449Leu
ENST00000649545.1:c.724-19A>C
ENST00000649688.1:c.*638A>C	ENSP00000497097.1:n.*638A>C
ENST00000649814.1:n.1394A>C
ENST00000650270.1:c.1212A>C
ENST00000273783.7:c.1345A>C	ENSP00000273783.3:p.Ile449Leu
ENST00000432982.5:c.288A>C
ENST00000444495.1:c.1345A>C	ENSP00000409142.1:p.Ile449Leu
ENST00000479250.1:n.172A>C
ENST00000481054.5:n.1439A>C
ENST00000491144.5:n.1849A>C
ENST00000492773.5:n.228A>C
NM_003907.2:c.1345A>C	NP_003898.2:p.Ile449Leu
XM_011513265.1:c.595A>C	XP_011511567.1:p.Ile199Leu
XM_011513266.1:c.508A>C	XP_011511568.1:p.Ile170Leu
XR_924208.1:n.2296A>C
NM_003907.3:c.1345A>C MANE Select	NP_003898.2:p.Ile449Leu
XM_011513266.3:c.508A>C	XP_011511568.1:p.Ile170Leu
XR_001740352.2:n.1708A>C
XR_001740353.2:n.1708A>C
XR_924208.2:n.1708A>C