Canonical Allele Identifier: CA355385664

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183858363G>C (hg19) ; chr3:g.184140575G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140575G>C , CM000665.2:g.184140575G>C	GRCh38
NC_000003.11:g.183858363G>C , CM000665.1:g.183858363G>C	GRCh37
NC_000003.10:g.185341057G>C	NCBI36
NG_015826.1:g.10554G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1024G>C
ENST00000468748.7:n.1244G>C
ENST00000484154.2:n.1387-1350G>C
ENST00000491008.6:n.1749G>C
ENST00000492226.2:n.1258G>C
ENST00000492773.6:c.755G>C
ENST00000647636.1:c.1001G>C	ENSP00000497505.1:p.Ser334Thr
ENST00000647909.1:c.1025G>C	ENSP00000498164.1:p.Ser342Thr
ENST00000648145.1:c.769G>C
ENST00000648189.1:c.815G>C
ENST00000648256.1:c.973G>C	ENSP00000497356.1:n.973G>C
ENST00000648314.1:c.*120G>C	ENSP00000496920.1:n.*120G>C
ENST00000648599.1:c.*284G>C	ENSP00000497159.1:n.*284G>C
ENST00000648630.1:c.995G>C	ENSP00000497887.1:p.Ser332Thr
ENST00000648682.1:c.1001G>C	ENSP00000498185.1:p.Ser334Thr
ENST00000648882.1:c.*827G>C	ENSP00000497603.1:n.*827G>C
ENST00000648890.1:c.1001G>C	ENSP00000497503.1:p.Ser334Thr
ENST00000648915.2:c.1001G>C MANE Select	ENSP00000497160.1:p.Ser334Thr
ENST00000649545.1:c.577+418G>C
ENST00000649688.1:c.*284G>C	ENSP00000497097.1:n.*284G>C
ENST00000649814.1:n.1050G>C
ENST00000650270.1:c.868G>C
ENST00000273783.7:c.1001G>C	ENSP00000273783.3:p.Ser334Thr
ENST00000432982.5:c.246-1662G>C
ENST00000444495.1:c.1001G>C	ENSP00000409142.1:p.Ser334Thr
ENST00000479833.1:n.317G>C
ENST00000481054.5:n.1095G>C
ENST00000491144.5:n.1505G>C
ENST00000493740.1:n.231G>C
NM_003907.2:c.1001G>C	NP_003898.2:p.Ser334Thr
XM_011513265.1:c.251G>C	XP_011511567.1:p.Ser84Thr
XM_011513266.1:c.164G>C	XP_011511568.1:p.Ser55Thr
XR_924208.1:n.1952G>C
NM_003907.3:c.1001G>C MANE Select	NP_003898.2:p.Ser334Thr
XM_011513266.3:c.164G>C	XP_011511568.1:p.Ser55Thr
XR_001740352.2:n.1364G>C
XR_001740353.2:n.1364G>C
XR_924208.2:n.1364G>C