Canonical Allele Identifier: CA88840425

Gene: EIF2B5

Linked Data

• dbSNP Id: rs913624063
• MyVariant Identifiers: chr3:g.183855525T>C (hg19) ; chr3:g.184137737T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137737T>C , CM000665.2:g.184137737T>C	GRCh38
NC_000003.11:g.183855525T>C , CM000665.1:g.183855525T>C	GRCh37
NC_000003.10:g.185338219T>C	NCBI36
NG_015826.1:g.7716T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.461T>C
ENST00000468748.7:n.421T>C
ENST00000484154.2:n.1059T>C
ENST00000491008.6:n.1186T>C
ENST00000492226.2:n.435T>C
ENST00000492773.6:c.170T>C
ENST00000647636.1:c.438T>C	ENSP00000497505.1:p.Ser146=
ENST00000647909.1:c.438T>C	ENSP00000498164.1:p.Ser146=
ENST00000648145.1:c.206T>C
ENST00000648189.1:c.188T>C
ENST00000648256.1:c.387T>C	ENSP00000497356.1:p.Ser129=
ENST00000648314.1:c.438T>C	ENSP00000496920.1:p.Ser146=
ENST00000648599.1:c.438T>C	ENSP00000497159.1:p.Ser146=
ENST00000648630.1:c.432T>C	ENSP00000497887.1:p.Ser144=
ENST00000648682.1:c.438T>C	ENSP00000498185.1:p.Ser146=
ENST00000648882.1:c.*264T>C	ENSP00000497603.1:n.*264T>C
ENST00000648890.1:c.438T>C	ENSP00000497503.1:p.Ser146=
ENST00000648915.2:c.438T>C MANE Select	ENSP00000497160.1:p.Ser146=
ENST00000649545.1:c.172T>C
ENST00000649688.1:c.438T>C	ENSP00000497097.1:p.Ser146=
ENST00000649814.1:n.487T>C
ENST00000650244.1:c.583T>C	ENSP00000497227.1:n.583T>C
ENST00000650270.1:c.305T>C
ENST00000273783.7:c.438T>C	ENSP00000273783.3:p.Ser146=
ENST00000432982.5:c.245+1062T>C
ENST00000444495.1:c.438T>C	ENSP00000409142.1:p.Ser146=
ENST00000481054.5:n.439T>C
ENST00000491008.5:n.402T>C
ENST00000491144.5:n.786T>C
ENST00000498831.1:n.393T>C
NM_003907.2:c.438T>C	NP_003898.2:p.Ser146=
XR_924208.1:n.1389T>C
NM_003907.3:c.438T>C MANE Select	NP_003898.2:p.Ser146=
XM_011513266.3:c.-464T>C	XP_011511568.1:n.-464T>C
XR_001740352.2:n.801T>C
XR_001740353.2:n.801T>C
XR_924208.2:n.801T>C