Canonical Allele Identifier: CA355382148

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 1997744
• ClinVar RCV Id: RCV002791928
• MyVariant Identifiers: chr3:g.183855700T>C (hg19) ; chr3:g.184137912T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137912T>C , CM000665.2:g.184137912T>C	GRCh38
NC_000003.11:g.183855700T>C , CM000665.1:g.183855700T>C	GRCh37
NC_000003.10:g.185338394T>C	NCBI36
NG_015826.1:g.7891T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.544T>C
ENST00000468748.7:n.504T>C
ENST00000484154.2:n.1142T>C
ENST00000491008.6:n.1269T>C
ENST00000492226.2:n.518T>C
ENST00000492773.6:c.253T>C
ENST00000647636.1:c.521T>C	ENSP00000497505.1:p.Leu174Pro
ENST00000647909.1:c.545T>C	ENSP00000498164.1:p.Leu182Pro
ENST00000648145.1:c.289T>C
ENST00000648189.1:c.271T>C
ENST00000648256.1:c.470T>C	ENSP00000497356.1:p.Leu157Pro
ENST00000648314.1:c.521T>C	ENSP00000496920.1:p.Leu174Pro
ENST00000648599.1:c.521T>C	ENSP00000497159.1:p.Leu174Pro
ENST00000648630.1:c.515T>C	ENSP00000497887.1:p.Leu172Pro
ENST00000648682.1:c.521T>C	ENSP00000498185.1:p.Leu174Pro
ENST00000648882.1:c.*347T>C	ENSP00000497603.1:n.*347T>C
ENST00000648890.1:c.521T>C	ENSP00000497503.1:p.Leu174Pro
ENST00000648915.2:c.521T>C MANE Select	ENSP00000497160.1:p.Leu174Pro
ENST00000649545.1:c.255T>C
ENST00000649688.1:c.521T>C	ENSP00000497097.1:p.Leu174Pro
ENST00000649814.1:n.570T>C
ENST00000650244.1:c.666T>C	ENSP00000497227.1:n.666T>C
ENST00000650270.1:c.388T>C
ENST00000273783.7:c.521T>C	ENSP00000273783.3:p.Leu174Pro
ENST00000432982.5:c.245+1237T>C
ENST00000444495.1:c.521T>C	ENSP00000409142.1:p.Leu174Pro
ENST00000481054.5:n.522T>C
ENST00000491008.5:n.485T>C
ENST00000491144.5:n.961T>C
ENST00000498831.1:n.476T>C
NM_003907.2:c.521T>C	NP_003898.2:p.Leu174Pro
XR_924208.1:n.1472T>C
NM_003907.3:c.521T>C MANE Select	NP_003898.2:p.Leu174Pro
XM_011513266.3:c.-381T>C	XP_011511568.1:n.-381T>C
XR_001740352.2:n.884T>C
XR_001740353.2:n.884T>C
XR_924208.2:n.884T>C