Canonical Allele Identifier: CA355389601

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183860075G>C (hg19) ; chr3:g.184142287G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184142287G>C , CM000665.2:g.184142287G>C	GRCh38
NC_000003.11:g.183860075G>C , CM000665.1:g.183860075G>C	GRCh37
NC_000003.10:g.185342769G>C	NCBI36
NG_015826.1:g.12266G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1376G>C
ENST00000468748.7:n.1596G>C
ENST00000484154.2:n.1583G>C
ENST00000491008.6:n.2101G>C
ENST00000492226.2:n.1620G>C
ENST00000492773.6:c.1107G>C
ENST00000647636.1:c.*202G>C	ENSP00000497505.1:n.*202G>C
ENST00000647909.1:c.1377G>C	ENSP00000498164.1:p.Leu459Phe
ENST00000648145.1:c.1125G>C
ENST00000648189.1:c.1171G>C
ENST00000648256.1:c.1325G>C	ENSP00000497356.1:n.1325G>C
ENST00000648314.1:c.*472G>C	ENSP00000496920.1:n.*472G>C
ENST00000648599.1:c.*636G>C	ENSP00000497159.1:n.*636G>C
ENST00000648630.1:c.1232G>C	ENSP00000497887.1:n.1232G>C
ENST00000648682.1:c.*193G>C	ENSP00000498185.1:n.*193G>C
ENST00000648882.1:c.*1179G>C	ENSP00000497603.1:n.*1179G>C
ENST00000648890.1:c.1353G>C	ENSP00000497503.1:p.Leu451Phe
ENST00000648915.2:c.1353G>C MANE Select	ENSP00000497160.1:p.Leu451Phe
ENST00000649545.1:c.724-11G>C
ENST00000649688.1:c.*646G>C	ENSP00000497097.1:n.*646G>C
ENST00000649814.1:n.1402G>C
ENST00000650270.1:c.1220G>C
ENST00000273783.7:c.1353G>C	ENSP00000273783.3:p.Leu451Phe
ENST00000432982.5:c.296G>C
ENST00000444495.1:c.1353G>C	ENSP00000409142.1:p.Leu451Phe
ENST00000479250.1:n.180G>C
ENST00000481054.5:n.1447G>C
ENST00000491144.5:n.1857G>C
ENST00000492773.5:n.236G>C
NM_003907.2:c.1353G>C	NP_003898.2:p.Leu451Phe
XM_011513265.1:c.603G>C	XP_011511567.1:p.Leu201Phe
XM_011513266.1:c.516G>C	XP_011511568.1:p.Leu172Phe
XR_924208.1:n.2304G>C
NM_003907.3:c.1353G>C MANE Select	NP_003898.2:p.Leu451Phe
XM_011513266.3:c.516G>C	XP_011511568.1:p.Leu172Phe
XR_001740352.2:n.1716G>C
XR_001740353.2:n.1716G>C
XR_924208.2:n.1716G>C