Canonical Allele Identifier: CA437323617

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1215960449
• gnomAD v2: 3-183855818-C-T
• MyVariant Identifiers: chr3:g.183855818C>T (hg19) ; chr3:g.184138030C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138030C>T , CM000665.2:g.184138030C>T	GRCh38
NC_000003.11:g.183855818C>T , CM000665.1:g.183855818C>T	GRCh37
NC_000003.10:g.185338512C>T	NCBI36
NG_015826.1:g.8009C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.662C>T
ENST00000468748.7:n.622C>T
ENST00000484154.2:n.1260C>T
ENST00000491008.6:n.1387C>T
ENST00000492226.2:n.636C>T
ENST00000492773.6:c.371C>T
ENST00000647636.1:c.639C>T	ENSP00000497505.1:p.Leu213=
ENST00000647909.1:c.663C>T	ENSP00000498164.1:p.Leu221=
ENST00000648145.1:c.407C>T
ENST00000648189.1:c.389C>T
ENST00000648256.1:c.588C>T	ENSP00000497356.1:p.Leu196=
ENST00000648314.1:c.639C>T	ENSP00000496920.1:p.Leu213=
ENST00000648599.1:c.639C>T	ENSP00000497159.1:p.Leu213=
ENST00000648630.1:c.633C>T	ENSP00000497887.1:p.Leu211=
ENST00000648682.1:c.639C>T	ENSP00000498185.1:p.Leu213=
ENST00000648882.1:c.*465C>T	ENSP00000497603.1:n.*465C>T
ENST00000648890.1:c.639C>T	ENSP00000497503.1:p.Leu213=
ENST00000648915.2:c.639C>T MANE Select	ENSP00000497160.1:p.Leu213=
ENST00000649545.1:c.373C>T
ENST00000649688.1:c.639C>T	ENSP00000497097.1:p.Leu213=
ENST00000649814.1:n.688C>T
ENST00000650270.1:c.506C>T
ENST00000273783.7:c.639C>T	ENSP00000273783.3:p.Leu213=
ENST00000432982.5:c.245+1355C>T
ENST00000444495.1:c.639C>T	ENSP00000409142.1:p.Leu213=
ENST00000468748.5:n.92C>T
ENST00000481054.5:n.640C>T
ENST00000491008.5:n.603C>T
ENST00000491144.5:n.1079C>T
ENST00000498831.1:n.594C>T
NM_003907.2:c.639C>T	NP_003898.2:p.Leu213=
XR_924208.1:n.1590C>T
NM_003907.3:c.639C>T MANE Select	NP_003898.2:p.Leu213=
XM_011513266.3:c.-263C>T	XP_011511568.1:n.-263C>T
XR_001740352.2:n.1002C>T
XR_001740353.2:n.1002C>T
XR_924208.2:n.1002C>T