Canonical Allele Identifier: CA355382446

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855836G>C (hg19) ; chr3:g.184138048G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138048G>C , CM000665.2:g.184138048G>C	GRCh38
NC_000003.11:g.183855836G>C , CM000665.1:g.183855836G>C	GRCh37
NC_000003.10:g.185338530G>C	NCBI36
NG_015826.1:g.8027G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.680G>C
ENST00000468748.7:n.640G>C
ENST00000484154.2:n.1278G>C
ENST00000491008.6:n.1405G>C
ENST00000492226.2:n.654G>C
ENST00000492773.6:c.389G>C
ENST00000647636.1:c.657G>C	ENSP00000497505.1:p.Gln219His
ENST00000647909.1:c.681G>C	ENSP00000498164.1:p.Gln227His
ENST00000648145.1:c.425G>C
ENST00000648189.1:c.407G>C
ENST00000648256.1:c.606G>C	ENSP00000497356.1:p.Gln202His
ENST00000648314.1:c.657G>C	ENSP00000496920.1:p.Gln219His
ENST00000648599.1:c.657G>C	ENSP00000497159.1:p.Gln219His
ENST00000648630.1:c.651G>C	ENSP00000497887.1:p.Gln217His
ENST00000648682.1:c.657G>C	ENSP00000498185.1:p.Gln219His
ENST00000648882.1:c.*483G>C	ENSP00000497603.1:n.*483G>C
ENST00000648890.1:c.657G>C	ENSP00000497503.1:p.Gln219His
ENST00000648915.2:c.657G>C MANE Select	ENSP00000497160.1:p.Gln219His
ENST00000649545.1:c.391G>C
ENST00000649688.1:c.657G>C	ENSP00000497097.1:p.Gln219His
ENST00000649814.1:n.706G>C
ENST00000650270.1:c.524G>C
ENST00000273783.7:c.657G>C	ENSP00000273783.3:p.Gln219His
ENST00000432982.5:c.245+1373G>C
ENST00000444495.1:c.657G>C	ENSP00000409142.1:p.Gln219His
ENST00000468748.5:n.110G>C
ENST00000481054.5:n.658G>C
ENST00000491008.5:n.621G>C
ENST00000491144.5:n.1097G>C
NM_003907.2:c.657G>C	NP_003898.2:p.Gln219His
XR_924208.1:n.1608G>C
NM_003907.3:c.657G>C MANE Select	NP_003898.2:p.Gln219His
XM_011513266.3:c.-245G>C	XP_011511568.1:n.-245G>C
XR_001740352.2:n.1020G>C
XR_001740353.2:n.1020G>C
XR_924208.2:n.1020G>C