Canonical Allele Identifier: CA88839964

Gene: EIF2B5

Linked Data

• dbSNP Id: rs999518349
• gnomAD v2: 3-183853160-C-A
• gnomAD v3: 3-184135372-C-A
• gnomAD v4: 3-184135372-C-A
• MyVariant Identifiers: chr3:g.183853160C>A (hg19) ; chr3:g.184135372C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184135372C>A , CM000665.2:g.184135372C>A	GRCh38
NC_000003.11:g.183853160C>A , CM000665.1:g.183853160C>A	GRCh37
NC_000003.10:g.185335854C>A	NCBI36
NG_015826.1:g.5351C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432569.2:c.-14C>A	ENSP00000414775.1:n.-14C>A
ENST00000465218.3:n.10C>A
ENST00000471832.2:c.-14C>A	ENSP00000497786.1:n.-14C>A
ENST00000647636.1:c.-14C>A	ENSP00000497505.1:n.-14C>A
ENST00000648314.1:c.-14C>A	ENSP00000496920.1:n.-14C>A
ENST00000648915.2:c.-14C>A MANE Select	ENSP00000497160.1:n.-14C>A
ENST00000649814.1:n.36C>A
ENST00000273783.7:c.-14C>A	ENSP00000273783.3:n.-14C>A
ENST00000432569.1:c.-14C>A	ENSP00000414775.1:n.-14C>A
ENST00000491144.5:n.335C>A
NM_003907.2:c.-14C>A	NP_003898.2:n.-14C>A
XR_924208.1:n.938C>A
NM_003907.3:c.-14C>A MANE Select	NP_003898.2:n.-14C>A
XR_001740352.2:n.350C>A
XR_001740353.2:n.350C>A
XR_924208.2:n.350C>A