Canonical Allele Identifier: CA355386643

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183859724G>C (hg19) ; chr3:g.184141936G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184141936G>C , CM000665.2:g.184141936G>C	GRCh38
NC_000003.11:g.183859724G>C , CM000665.1:g.183859724G>C	GRCh37
NC_000003.10:g.185342418G>C	NCBI36
NG_015826.1:g.11915G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1191G>C
ENST00000468748.7:n.1411G>C
ENST00000484154.2:n.1398G>C
ENST00000491008.6:n.1916G>C
ENST00000492226.2:n.1435G>C
ENST00000492773.6:c.922G>C
ENST00000647636.1:c.*17G>C	ENSP00000497505.1:n.*17G>C
ENST00000647909.1:c.1192G>C	ENSP00000498164.1:p.Val398Leu
ENST00000648145.1:c.940G>C
ENST00000648189.1:c.986G>C
ENST00000648256.1:c.1140G>C	ENSP00000497356.1:n.1140G>C
ENST00000648314.1:c.*287G>C	ENSP00000496920.1:n.*287G>C
ENST00000648599.1:c.*451G>C	ENSP00000497159.1:n.*451G>C
ENST00000648630.1:c.1047G>C	ENSP00000497887.1:p.Trp349Cys
ENST00000648682.1:c.*8G>C	ENSP00000498185.1:n.*8G>C
ENST00000648882.1:c.*994G>C	ENSP00000497603.1:n.*994G>C
ENST00000648890.1:c.1168G>C	ENSP00000497503.1:p.Val390Leu
ENST00000648915.2:c.1168G>C MANE Select	ENSP00000497160.1:p.Val390Leu
ENST00000649545.1:c.589G>C
ENST00000649688.1:c.*461G>C	ENSP00000497097.1:n.*461G>C
ENST00000649814.1:n.1217G>C
ENST00000650270.1:c.1035G>C
ENST00000273783.7:c.1168G>C	ENSP00000273783.3:p.Val390Leu
ENST00000432982.5:c.246-301G>C
ENST00000444495.1:c.1168G>C	ENSP00000409142.1:p.Val390Leu
ENST00000479833.1:n.369G>C
ENST00000481054.5:n.1262G>C
ENST00000491144.5:n.1672G>C
ENST00000492773.5:n.51G>C
NM_003907.2:c.1168G>C	NP_003898.2:p.Val390Leu
XM_011513265.1:c.418G>C	XP_011511567.1:p.Val140Leu
XM_011513266.1:c.331G>C	XP_011511568.1:p.Val111Leu
XR_924208.1:n.2119G>C
NM_003907.3:c.1168G>C MANE Select	NP_003898.2:p.Val390Leu
XM_011513266.3:c.331G>C	XP_011511568.1:p.Val111Leu
XR_001740352.2:n.1531G>C
XR_001740353.2:n.1531G>C
XR_924208.2:n.1531G>C