Canonical Allele Identifier: CA2668795834

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184135371-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184135371C>T , CM000665.2:g.184135371C>T	GRCh38
NC_000003.11:g.183853159C>T , CM000665.1:g.183853159C>T	GRCh37
NC_000003.10:g.185335853C>T	NCBI36
NG_015826.1:g.5350C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432569.2:c.-15C>T	ENSP00000414775.1:n.-15C>T
ENST00000465218.3:n.9C>T
ENST00000471832.2:c.-15C>T	ENSP00000497786.1:n.-15C>T
ENST00000647636.1:c.-15C>T	ENSP00000497505.1:n.-15C>T
ENST00000648314.1:c.-15C>T	ENSP00000496920.1:n.-15C>T
ENST00000648915.2:c.-15C>T MANE Select	ENSP00000497160.1:n.-15C>T
ENST00000649814.1:n.35C>T
ENST00000273783.7:c.-15C>T	ENSP00000273783.3:n.-15C>T
ENST00000432569.1:c.-15C>T	ENSP00000414775.1:n.-15C>T
ENST00000491144.5:n.334C>T
NM_003907.2:c.-15C>T	NP_003898.2:n.-15C>T
XR_924208.1:n.937C>T
NM_003907.3:c.-15C>T MANE Select	NP_003898.2:n.-15C>T
XR_001740352.2:n.349C>T
XR_001740353.2:n.349C>T
XR_924208.2:n.349C>T