Canonical Allele Identifier: CA355385485

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183858340C>G (hg19) ; chr3:g.184140552C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140552C>G , CM000665.2:g.184140552C>G	GRCh38
NC_000003.11:g.183858340C>G , CM000665.1:g.183858340C>G	GRCh37
NC_000003.10:g.185341034C>G	NCBI36
NG_015826.1:g.10531C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1001C>G
ENST00000468748.7:n.1221C>G
ENST00000484154.2:n.1387-1373C>G
ENST00000491008.6:n.1726C>G
ENST00000492226.2:n.1235C>G
ENST00000492773.6:c.732C>G
ENST00000647636.1:c.978C>G	ENSP00000497505.1:p.Asn326Lys
ENST00000647909.1:c.1002C>G	ENSP00000498164.1:p.Asn334Lys
ENST00000648145.1:c.746C>G
ENST00000648189.1:c.792C>G
ENST00000648256.1:c.950C>G	ENSP00000497356.1:n.950C>G
ENST00000648314.1:c.*97C>G	ENSP00000496920.1:n.*97C>G
ENST00000648599.1:c.*261C>G	ENSP00000497159.1:n.*261C>G
ENST00000648630.1:c.972C>G	ENSP00000497887.1:p.Asn324Lys
ENST00000648682.1:c.978C>G	ENSP00000498185.1:p.Asn326Lys
ENST00000648882.1:c.*804C>G	ENSP00000497603.1:n.*804C>G
ENST00000648890.1:c.978C>G	ENSP00000497503.1:p.Asn326Lys
ENST00000648915.2:c.978C>G MANE Select	ENSP00000497160.1:p.Asn326Lys
ENST00000649545.1:c.577+395C>G
ENST00000649688.1:c.*261C>G	ENSP00000497097.1:n.*261C>G
ENST00000649814.1:n.1027C>G
ENST00000650270.1:c.845C>G
ENST00000273783.7:c.978C>G	ENSP00000273783.3:p.Asn326Lys
ENST00000432982.5:c.246-1685C>G
ENST00000444495.1:c.978C>G	ENSP00000409142.1:p.Asn326Lys
ENST00000479833.1:n.294C>G
ENST00000481054.5:n.1072C>G
ENST00000491144.5:n.1482C>G
ENST00000493740.1:n.208C>G
NM_003907.2:c.978C>G	NP_003898.2:p.Asn326Lys
XM_011513265.1:c.228C>G	XP_011511567.1:p.Asn76Lys
XM_011513266.1:c.141C>G	XP_011511568.1:p.Asn47Lys
XR_924208.1:n.1929C>G
NM_003907.3:c.978C>G MANE Select	NP_003898.2:p.Asn326Lys
XM_011513266.3:c.141C>G	XP_011511568.1:p.Asn47Lys
XR_001740352.2:n.1341C>G
XR_001740353.2:n.1341C>G
XR_924208.2:n.1341C>G