Canonical Allele Identifier: CA437323242

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855408G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137620G>C , CM000665.2:g.184137620G>C	GRCh38
NC_000003.11:g.183855408G>C , CM000665.1:g.183855408G>C	GRCh37
NC_000003.10:g.185338102G>C	NCBI36
NG_015826.1:g.7599G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.344G>C
ENST00000468748.7:n.304G>C
ENST00000484154.2:n.942G>C
ENST00000491008.6:n.1069G>C
ENST00000492226.2:n.318G>C
ENST00000492773.6:c.53G>C
ENST00000647636.1:c.321G>C	ENSP00000497505.1:p.Leu107=
ENST00000647909.1:c.321G>C	ENSP00000498164.1:p.Leu107=
ENST00000648145.1:c.89G>C
ENST00000648189.1:c.71G>C
ENST00000648256.1:c.270G>C	ENSP00000497356.1:p.Leu90=
ENST00000648314.1:c.321G>C	ENSP00000496920.1:p.Leu107=
ENST00000648599.1:c.321G>C	ENSP00000497159.1:p.Leu107=
ENST00000648630.1:c.315G>C	ENSP00000497887.1:p.Leu105=
ENST00000648682.1:c.321G>C	ENSP00000498185.1:p.Leu107=
ENST00000648882.1:c.*147G>C	ENSP00000497603.1:n.*147G>C
ENST00000648890.1:c.321G>C	ENSP00000497503.1:p.Leu107=
ENST00000648915.2:c.321G>C MANE Select	ENSP00000497160.1:p.Leu107=
ENST00000649545.1:c.55G>C
ENST00000649688.1:c.321G>C	ENSP00000497097.1:p.Leu107=
ENST00000649814.1:n.370G>C
ENST00000650244.1:c.466G>C	ENSP00000497227.1:n.466G>C
ENST00000650270.1:c.188G>C
ENST00000273783.7:c.321G>C	ENSP00000273783.3:p.Leu107=
ENST00000432982.5:c.245+945G>C
ENST00000444495.1:c.321G>C	ENSP00000409142.1:p.Leu107=
ENST00000481054.5:n.322G>C
ENST00000491008.5:n.285G>C
ENST00000491144.5:n.669G>C
ENST00000498831.1:n.276G>C
NM_003907.2:c.321G>C	NP_003898.2:p.Leu107=
XR_924208.1:n.1272G>C
NM_003907.3:c.321G>C MANE Select	NP_003898.2:p.Leu107=
XM_011513266.3:c.-581G>C	XP_011511568.1:n.-581G>C
XR_001740352.2:n.684G>C
XR_001740353.2:n.684G>C
XR_924208.2:n.684G>C