Canonical Allele Identifier: CA437323639

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855854A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138066A>C , CM000665.2:g.184138066A>C	GRCh38
NC_000003.11:g.183855854A>C , CM000665.1:g.183855854A>C	GRCh37
NC_000003.10:g.185338548A>C	NCBI36
NG_015826.1:g.8045A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.698A>C
ENST00000468748.7:n.658A>C
ENST00000484154.2:n.1296A>C
ENST00000491008.6:n.1423A>C
ENST00000492226.2:n.672A>C
ENST00000492773.6:c.407A>C
ENST00000647636.1:c.675A>C	ENSP00000497505.1:p.Ala225=
ENST00000647909.1:c.699A>C	ENSP00000498164.1:p.Ala233=
ENST00000648145.1:c.443A>C
ENST00000648189.1:c.425A>C
ENST00000648256.1:c.624A>C	ENSP00000497356.1:p.Ala208=
ENST00000648314.1:c.675A>C	ENSP00000496920.1:p.Ala225=
ENST00000648599.1:c.675A>C	ENSP00000497159.1:p.Ala225=
ENST00000648630.1:c.669A>C	ENSP00000497887.1:p.Ala223=
ENST00000648682.1:c.675A>C	ENSP00000498185.1:p.Ala225=
ENST00000648882.1:c.*501A>C	ENSP00000497603.1:n.*501A>C
ENST00000648890.1:c.675A>C	ENSP00000497503.1:p.Ala225=
ENST00000648915.2:c.675A>C MANE Select	ENSP00000497160.1:p.Ala225=
ENST00000649545.1:c.409A>C
ENST00000649688.1:c.675A>C	ENSP00000497097.1:p.Ala225=
ENST00000649814.1:n.724A>C
ENST00000650270.1:c.542A>C
ENST00000273783.7:c.675A>C	ENSP00000273783.3:p.Ala225=
ENST00000432982.5:c.245+1391A>C
ENST00000444495.1:c.675A>C	ENSP00000409142.1:p.Ala225=
ENST00000468748.5:n.128A>C
ENST00000481054.5:n.676A>C
ENST00000491008.5:n.639A>C
ENST00000491144.5:n.1115A>C
NM_003907.2:c.675A>C	NP_003898.2:p.Ala225=
XR_924208.1:n.1626A>C
NM_003907.3:c.675A>C MANE Select	NP_003898.2:p.Ala225=
XM_011513266.3:c.-227A>C	XP_011511568.1:n.-227A>C
XR_001740352.2:n.1038A>C
XR_001740353.2:n.1038A>C
XR_924208.2:n.1038A>C