Canonical Allele Identifier: CA437323634

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855845G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138057G>C , CM000665.2:g.184138057G>C	GRCh38
NC_000003.11:g.183855845G>C , CM000665.1:g.183855845G>C	GRCh37
NC_000003.10:g.185338539G>C	NCBI36
NG_015826.1:g.8036G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.689G>C
ENST00000468748.7:n.649G>C
ENST00000484154.2:n.1287G>C
ENST00000491008.6:n.1414G>C
ENST00000492226.2:n.663G>C
ENST00000492773.6:c.398G>C
ENST00000647636.1:c.666G>C	ENSP00000497505.1:p.Arg222=
ENST00000647909.1:c.690G>C	ENSP00000498164.1:p.Arg230=
ENST00000648145.1:c.434G>C
ENST00000648189.1:c.416G>C
ENST00000648256.1:c.615G>C	ENSP00000497356.1:p.Arg205=
ENST00000648314.1:c.666G>C	ENSP00000496920.1:p.Arg222=
ENST00000648599.1:c.666G>C	ENSP00000497159.1:p.Arg222=
ENST00000648630.1:c.660G>C	ENSP00000497887.1:p.Arg220=
ENST00000648682.1:c.666G>C	ENSP00000498185.1:p.Arg222=
ENST00000648882.1:c.*492G>C	ENSP00000497603.1:n.*492G>C
ENST00000648890.1:c.666G>C	ENSP00000497503.1:p.Arg222=
ENST00000648915.2:c.666G>C MANE Select	ENSP00000497160.1:p.Arg222=
ENST00000649545.1:c.400G>C
ENST00000649688.1:c.666G>C	ENSP00000497097.1:p.Arg222=
ENST00000649814.1:n.715G>C
ENST00000650270.1:c.533G>C
ENST00000273783.7:c.666G>C	ENSP00000273783.3:p.Arg222=
ENST00000432982.5:c.245+1382G>C
ENST00000444495.1:c.666G>C	ENSP00000409142.1:p.Arg222=
ENST00000468748.5:n.119G>C
ENST00000481054.5:n.667G>C
ENST00000491008.5:n.630G>C
ENST00000491144.5:n.1106G>C
NM_003907.2:c.666G>C	NP_003898.2:p.Arg222=
XR_924208.1:n.1617G>C
NM_003907.3:c.666G>C MANE Select	NP_003898.2:p.Arg222=
XM_011513266.3:c.-236G>C	XP_011511568.1:n.-236G>C
XR_001740352.2:n.1029G>C
XR_001740353.2:n.1029G>C
XR_924208.2:n.1029G>C