Canonical Allele Identifier: CA355381623

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1713376212
• MyVariant Identifiers: chr3:g.183854491G>C (hg19) ; chr3:g.184136703G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184136703G>C , CM000665.2:g.184136703G>C	GRCh38
NC_000003.11:g.183854491G>C , CM000665.1:g.183854491G>C	GRCh37
NC_000003.10:g.185337185G>C	NCBI36
NG_015826.1:g.6682G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432569.2:c.287G>C	ENSP00000414775.1:p.Cys96Ser
ENST00000465218.3:n.310G>C
ENST00000468748.7:n.270G>C
ENST00000471832.2:c.*281G>C	ENSP00000497786.1:n.*281G>C
ENST00000484154.2:n.25G>C
ENST00000491008.6:n.152G>C
ENST00000492226.2:n.284G>C
ENST00000492773.6:c.19G>C
ENST00000647636.1:c.287G>C	ENSP00000497505.1:p.Cys96Ser
ENST00000647909.1:c.287G>C	ENSP00000498164.1:p.Cys96Ser
ENST00000648145.1:c.55G>C
ENST00000648189.1:c.37G>C
ENST00000648256.1:c.236G>C	ENSP00000497356.1:p.Cys79Ser
ENST00000648314.1:c.287G>C	ENSP00000496920.1:p.Cys96Ser
ENST00000648599.1:c.287G>C	ENSP00000497159.1:p.Cys96Ser
ENST00000648630.1:c.281G>C	ENSP00000497887.1:p.Cys94Ser
ENST00000648682.1:c.287G>C	ENSP00000498185.1:p.Cys96Ser
ENST00000648882.1:c.*113G>C	ENSP00000497603.1:n.*113G>C
ENST00000648890.1:c.287G>C	ENSP00000497503.1:p.Cys96Ser
ENST00000648915.2:c.287G>C MANE Select	ENSP00000497160.1:p.Cys96Ser
ENST00000649545.1:c.21G>C
ENST00000649688.1:c.287G>C	ENSP00000497097.1:p.Cys96Ser
ENST00000649814.1:n.336G>C
ENST00000650244.1:c.432G>C	ENSP00000497227.1:n.432G>C
ENST00000650270.1:c.154G>C
ENST00000273783.7:c.287G>C	ENSP00000273783.3:p.Cys96Ser
ENST00000432569.1:c.287G>C	ENSP00000414775.1:p.Cys96Ser
ENST00000432982.5:c.245+28G>C
ENST00000444495.1:c.287G>C	ENSP00000409142.1:p.Cys96Ser
ENST00000471832.1:n.218G>C
ENST00000481054.5:n.288G>C
ENST00000491144.5:n.635G>C
ENST00000498831.1:n.143G>C
NM_003907.2:c.287G>C	NP_003898.2:p.Cys96Ser
XR_924208.1:n.1238G>C
NM_003907.3:c.287G>C MANE Select	NP_003898.2:p.Cys96Ser
XM_011513266.3:c.-615G>C	XP_011511568.1:n.-615G>C
XR_001740352.2:n.650G>C
XR_001740353.2:n.650G>C
XR_924208.2:n.650G>C