Canonical Allele Identifier: CA355382204

Gene: EIF2B5

Linked Data

• dbSNP Id: rs776464659
• gnomAD v3: 3-184137938-A-T
• gnomAD v4: 3-184137938-A-T
• MyVariant Identifiers: chr3:g.183855726A>T (hg19) ; chr3:g.184137938A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137938A>T , CM000665.2:g.184137938A>T	GRCh38
NC_000003.11:g.183855726A>T , CM000665.1:g.183855726A>T	GRCh37
NC_000003.10:g.185338420A>T	NCBI36
NG_015826.1:g.7917A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.570A>T
ENST00000468748.7:n.530A>T
ENST00000484154.2:n.1168A>T
ENST00000491008.6:n.1295A>T
ENST00000492226.2:n.544A>T
ENST00000492773.6:c.279A>T
ENST00000647636.1:c.547A>T	ENSP00000497505.1:p.Met183Leu
ENST00000647909.1:c.571A>T	ENSP00000498164.1:p.Met191Leu
ENST00000648145.1:c.315A>T
ENST00000648189.1:c.297A>T
ENST00000648256.1:c.496A>T	ENSP00000497356.1:p.Met166Leu
ENST00000648314.1:c.547A>T	ENSP00000496920.1:p.Met183Leu
ENST00000648599.1:c.547A>T	ENSP00000497159.1:p.Met183Leu
ENST00000648630.1:c.541A>T	ENSP00000497887.1:p.Met181Leu
ENST00000648682.1:c.547A>T	ENSP00000498185.1:p.Met183Leu
ENST00000648882.1:c.*373A>T	ENSP00000497603.1:n.*373A>T
ENST00000648890.1:c.547A>T	ENSP00000497503.1:p.Met183Leu
ENST00000648915.2:c.547A>T MANE Select	ENSP00000497160.1:p.Met183Leu
ENST00000649545.1:c.281A>T
ENST00000649688.1:c.547A>T	ENSP00000497097.1:p.Met183Leu
ENST00000649814.1:n.596A>T
ENST00000650244.1:c.692A>T	ENSP00000497227.1:n.692A>T
ENST00000650270.1:c.414A>T
ENST00000273783.7:c.547A>T	ENSP00000273783.3:p.Met183Leu
ENST00000432982.5:c.245+1263A>T
ENST00000444495.1:c.547A>T	ENSP00000409142.1:p.Met183Leu
ENST00000481054.5:n.548A>T
ENST00000491008.5:n.511A>T
ENST00000491144.5:n.987A>T
ENST00000498831.1:n.502A>T
NM_003907.2:c.547A>T	NP_003898.2:p.Met183Leu
XR_924208.1:n.1498A>T
NM_003907.3:c.547A>T MANE Select	NP_003898.2:p.Met183Leu
XM_011513266.3:c.-355A>T	XP_011511568.1:n.-355A>T
XR_001740352.2:n.910A>T
XR_001740353.2:n.910A>T
XR_924208.2:n.910A>T