Canonical Allele Identifier: CA355394524

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184144181-A-G
• MyVariant Identifiers: chr3:g.183861969A>G (hg19) ; chr3:g.184144181A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184144181A>G , CM000665.2:g.184144181A>G	GRCh38
NC_000003.11:g.183861969A>G , CM000665.1:g.183861969A>G	GRCh37
NC_000003.10:g.185344663A>G	NCBI36
NG_015826.1:g.14160A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.2274A>G
ENST00000468748.7:n.3027A>G
ENST00000484154.2:n.3014A>G
ENST00000491008.6:n.2716A>G
ENST00000492226.2:n.3051A>G
ENST00000492773.6:c.1706A>G
ENST00000647636.1:c.*801A>G	ENSP00000497505.1:n.*801A>G
ENST00000647909.1:c.1976A>G	ENSP00000498164.1:p.Asp659Gly
ENST00000648145.1:c.1744A>G
ENST00000648189.1:c.1786A>G
ENST00000648256.1:c.1924A>G	ENSP00000497356.1:n.1924A>G
ENST00000648314.1:c.*1341A>G	ENSP00000496920.1:n.*1341A>G
ENST00000648599.1:c.*1235A>G	ENSP00000497159.1:n.*1235A>G
ENST00000648630.1:c.2130A>G	ENSP00000497887.1:n.2130A>G
ENST00000648682.1:c.*1091A>G	ENSP00000498185.1:n.*1091A>G
ENST00000648882.1:c.*1778A>G	ENSP00000497603.1:n.*1778A>G
ENST00000648890.1:c.*375A>G	ENSP00000497503.1:n.*375A>G
ENST00000648915.2:c.1952A>G MANE Select	ENSP00000497160.1:p.Asp651Gly
ENST00000649545.1:c.1611A>G
ENST00000649688.1:c.*1544A>G	ENSP00000497097.1:n.*1544A>G
ENST00000649814.1:n.2550A>G
ENST00000650270.1:c.1830A>G
ENST00000273783.7:c.1952A>G	ENSP00000273783.3:p.Asp651Gly
ENST00000444495.1:c.1952A>G	ENSP00000409142.1:p.Asp651Gly
ENST00000465218.2:n.734A>G
ENST00000481054.5:n.2878A>G
ENST00000491144.5:n.2456A>G
ENST00000492226.1:n.128A>G
NM_003907.2:c.1952A>G	NP_003898.2:p.Asp651Gly
XM_011513265.1:c.1202A>G	XP_011511567.1:p.Asp401Gly
XM_011513266.1:c.1115A>G	XP_011511568.1:p.Asp372Gly
XR_924208.1:n.2919A>G
NM_003907.3:c.1952A>G MANE Select	NP_003898.2:p.Asp651Gly
XM_011513266.3:c.1115A>G	XP_011511568.1:p.Asp372Gly
XR_001740352.2:n.2326A>G
XR_001740353.2:n.2342A>G
XR_924208.2:n.2331A>G