Canonical Allele Identifier: CA355382144

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184137910-G-T
• MyVariant Identifiers: chr3:g.183855698G>T (hg19) ; chr3:g.184137910G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137910G>T , CM000665.2:g.184137910G>T	GRCh38
NC_000003.11:g.183855698G>T , CM000665.1:g.183855698G>T	GRCh37
NC_000003.10:g.185338392G>T	NCBI36
NG_015826.1:g.7889G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.542G>T
ENST00000468748.7:n.502G>T
ENST00000484154.2:n.1140G>T
ENST00000491008.6:n.1267G>T
ENST00000492226.2:n.516G>T
ENST00000492773.6:c.251G>T
ENST00000647636.1:c.519G>T	ENSP00000497505.1:p.Lys173Asn
ENST00000647909.1:c.543G>T	ENSP00000498164.1:p.Lys181Asn
ENST00000648145.1:c.287G>T
ENST00000648189.1:c.269G>T
ENST00000648256.1:c.468G>T	ENSP00000497356.1:p.Lys156Asn
ENST00000648314.1:c.519G>T	ENSP00000496920.1:p.Lys173Asn
ENST00000648599.1:c.519G>T	ENSP00000497159.1:p.Lys173Asn
ENST00000648630.1:c.513G>T	ENSP00000497887.1:p.Lys171Asn
ENST00000648682.1:c.519G>T	ENSP00000498185.1:p.Lys173Asn
ENST00000648882.1:c.*345G>T	ENSP00000497603.1:n.*345G>T
ENST00000648890.1:c.519G>T	ENSP00000497503.1:p.Lys173Asn
ENST00000648915.2:c.519G>T MANE Select	ENSP00000497160.1:p.Lys173Asn
ENST00000649545.1:c.253G>T
ENST00000649688.1:c.519G>T	ENSP00000497097.1:p.Lys173Asn
ENST00000649814.1:n.568G>T
ENST00000650244.1:c.664G>T	ENSP00000497227.1:n.664G>T
ENST00000650270.1:c.386G>T
ENST00000273783.7:c.519G>T	ENSP00000273783.3:p.Lys173Asn
ENST00000432982.5:c.245+1235G>T
ENST00000444495.1:c.519G>T	ENSP00000409142.1:p.Lys173Asn
ENST00000481054.5:n.520G>T
ENST00000491008.5:n.483G>T
ENST00000491144.5:n.959G>T
ENST00000498831.1:n.474G>T
NM_003907.2:c.519G>T	NP_003898.2:p.Lys173Asn
XR_924208.1:n.1470G>T
NM_003907.3:c.519G>T MANE Select	NP_003898.2:p.Lys173Asn
XM_011513266.3:c.-383G>T	XP_011511568.1:n.-383G>T
XR_001740352.2:n.882G>T
XR_001740353.2:n.882G>T
XR_924208.2:n.882G>T