Canonical Allele Identifier: CA355394540

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183861974T>C (hg19) ; chr3:g.184144186T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184144186T>C , CM000665.2:g.184144186T>C	GRCh38
NC_000003.11:g.183861974T>C , CM000665.1:g.183861974T>C	GRCh37
NC_000003.10:g.185344668T>C	NCBI36
NG_015826.1:g.14165T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.2279T>C
ENST00000468748.7:n.3032T>C
ENST00000484154.2:n.3019T>C
ENST00000491008.6:n.2721T>C
ENST00000492226.2:n.3056T>C
ENST00000492773.6:c.1711T>C
ENST00000647636.1:c.*806T>C	ENSP00000497505.1:n.*806T>C
ENST00000647909.1:c.1981T>C	ENSP00000498164.1:p.Phe661Leu
ENST00000648145.1:c.1749T>C
ENST00000648189.1:c.1791T>C
ENST00000648256.1:c.1929T>C	ENSP00000497356.1:n.1929T>C
ENST00000648314.1:c.*1346T>C	ENSP00000496920.1:n.*1346T>C
ENST00000648599.1:c.*1240T>C	ENSP00000497159.1:n.*1240T>C
ENST00000648630.1:c.2135T>C	ENSP00000497887.1:n.2135T>C
ENST00000648682.1:c.*1096T>C	ENSP00000498185.1:n.*1096T>C
ENST00000648882.1:c.*1783T>C	ENSP00000497603.1:n.*1783T>C
ENST00000648890.1:c.*380T>C	ENSP00000497503.1:n.*380T>C
ENST00000648915.2:c.1957T>C MANE Select	ENSP00000497160.1:p.Phe653Leu
ENST00000649545.1:c.1616T>C
ENST00000649688.1:c.*1549T>C	ENSP00000497097.1:n.*1549T>C
ENST00000649814.1:n.2555T>C
ENST00000650270.1:c.1835T>C
ENST00000273783.7:c.1957T>C	ENSP00000273783.3:p.Phe653Leu
ENST00000444495.1:c.1957T>C	ENSP00000409142.1:p.Phe653Leu
ENST00000465218.2:n.739T>C
ENST00000481054.5:n.2883T>C
ENST00000491144.5:n.2461T>C
ENST00000492226.1:n.133T>C
NM_003907.2:c.1957T>C	NP_003898.2:p.Phe653Leu
XM_011513265.1:c.1207T>C	XP_011511567.1:p.Phe403Leu
XM_011513266.1:c.1120T>C	XP_011511568.1:p.Phe374Leu
XR_924208.1:n.2924T>C
NM_003907.3:c.1957T>C MANE Select	NP_003898.2:p.Phe653Leu
XM_011513266.3:c.1120T>C	XP_011511568.1:p.Phe374Leu
XR_001740352.2:n.2331T>C
XR_001740353.2:n.2347T>C
XR_924208.2:n.2336T>C