Canonical Allele Identifier: CA2668795823

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184135366-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184135366G>T , CM000665.2:g.184135366G>T	GRCh38
NC_000003.11:g.183853154G>T , CM000665.1:g.183853154G>T	GRCh37
NC_000003.10:g.185335848G>T	NCBI36
NG_015826.1:g.5345G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432569.2:c.-20G>T	ENSP00000414775.1:n.-20G>T
ENST00000465218.3:n.4G>T
ENST00000471832.2:c.-20G>T	ENSP00000497786.1:n.-20G>T
ENST00000647636.1:c.-20G>T	ENSP00000497505.1:n.-20G>T
ENST00000648314.1:c.-20G>T	ENSP00000496920.1:n.-20G>T
ENST00000648915.2:c.-20G>T MANE Select	ENSP00000497160.1:n.-20G>T
ENST00000649814.1:n.30G>T
ENST00000273783.7:c.-20G>T	ENSP00000273783.3:n.-20G>T
ENST00000432569.1:c.-20G>T	ENSP00000414775.1:n.-20G>T
ENST00000491144.5:n.329G>T
NM_003907.2:c.-20G>T	NP_003898.2:n.-20G>T
XR_924208.1:n.932G>T
NM_003907.3:c.-20G>T MANE Select	NP_003898.2:n.-20G>T
XR_001740352.2:n.344G>T
XR_001740353.2:n.344G>T
XR_924208.2:n.344G>T