Canonical Allele Identifier: CA355387377

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183859844G>C (hg19) ; chr3:g.184142056G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184142056G>C , CM000665.2:g.184142056G>C	GRCh38
NC_000003.11:g.183859844G>C , CM000665.1:g.183859844G>C	GRCh37
NC_000003.10:g.185342538G>C	NCBI36
NG_015826.1:g.12035G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1311G>C
ENST00000468748.7:n.1531G>C
ENST00000484154.2:n.1518G>C
ENST00000491008.6:n.2036G>C
ENST00000492226.2:n.1555G>C
ENST00000492773.6:c.1042G>C
ENST00000647636.1:c.*137G>C	ENSP00000497505.1:n.*137G>C
ENST00000647909.1:c.1312G>C	ENSP00000498164.1:p.Val438Leu
ENST00000648145.1:c.1060G>C
ENST00000648189.1:c.1106G>C
ENST00000648256.1:c.1260G>C	ENSP00000497356.1:n.1260G>C
ENST00000648314.1:c.*407G>C	ENSP00000496920.1:n.*407G>C
ENST00000648599.1:c.*571G>C	ENSP00000497159.1:n.*571G>C
ENST00000648630.1:c.1167G>C	ENSP00000497887.1:n.1167G>C
ENST00000648682.1:c.*128G>C	ENSP00000498185.1:n.*128G>C
ENST00000648882.1:c.*1114G>C	ENSP00000497603.1:n.*1114G>C
ENST00000648890.1:c.1288G>C	ENSP00000497503.1:p.Val430Leu
ENST00000648915.2:c.1288G>C MANE Select	ENSP00000497160.1:p.Val430Leu
ENST00000649545.1:c.709G>C
ENST00000649688.1:c.*581G>C	ENSP00000497097.1:n.*581G>C
ENST00000649814.1:n.1337G>C
ENST00000650270.1:c.1155G>C
ENST00000273783.7:c.1288G>C	ENSP00000273783.3:p.Val430Leu
ENST00000432982.5:c.246-181G>C
ENST00000444495.1:c.1288G>C	ENSP00000409142.1:p.Val430Leu
ENST00000481054.5:n.1382G>C
ENST00000491144.5:n.1792G>C
ENST00000492773.5:n.171G>C
NM_003907.2:c.1288G>C	NP_003898.2:p.Val430Leu
XM_011513265.1:c.538G>C	XP_011511567.1:p.Val180Leu
XM_011513266.1:c.451G>C	XP_011511568.1:p.Val151Leu
XR_924208.1:n.2239G>C
NM_003907.3:c.1288G>C MANE Select	NP_003898.2:p.Val430Leu
XM_011513266.3:c.451G>C	XP_011511568.1:p.Val151Leu
XR_001740352.2:n.1651G>C
XR_001740353.2:n.1651G>C
XR_924208.2:n.1651G>C