Canonical Allele Identifier: CA1057209139

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1713642178
• gnomAD v3: 3-184141713-T-C
• gnomAD v4: 3-184141713-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184141713T>C , CM000665.2:g.184141713T>C	GRCh38
NC_000003.11:g.183859501T>C , CM000665.1:g.183859501T>C	GRCh37
NC_000003.10:g.185342195T>C	NCBI36
NG_015826.1:g.11692T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1180-212T>C
ENST00000468748.7:n.1400-212T>C
ENST00000484154.2:n.1387-212T>C
ENST00000491008.6:n.1905-212T>C
ENST00000492226.2:n.1424-212T>C
ENST00000492773.6:c.911-212T>C
ENST00000647636.1:c.1157-154T>C	ENSP00000497505.1:n.1157-154T>C
ENST00000647909.1:c.1181-212T>C	ENSP00000498164.1:n.1181-212T>C
ENST00000648145.1:c.925-208T>C
ENST00000648189.1:c.971-208T>C
ENST00000648256.1:c.1129-212T>C	ENSP00000497356.1:n.1129-212T>C
ENST00000648314.1:c.*276-212T>C	ENSP00000496920.1:n.*276-212T>C
ENST00000648599.1:c.*440-212T>C	ENSP00000497159.1:n.*440-212T>C
ENST00000648630.1:c.1036-212T>C	ENSP00000497887.1:n.1036-212T>C
ENST00000648682.1:c.1167-212T>C	ENSP00000498185.1:n.1167-212T>C
ENST00000648882.1:c.*983-212T>C	ENSP00000497603.1:n.*983-212T>C
ENST00000648890.1:c.1157-212T>C	ENSP00000497503.1:n.1157-212T>C
ENST00000648915.2:c.1157-212T>C MANE Select	ENSP00000497160.1:n.1157-212T>C
ENST00000649545.1:c.578-212T>C
ENST00000649688.1:c.*450-212T>C	ENSP00000497097.1:n.*450-212T>C
ENST00000649814.1:n.1206-212T>C
ENST00000650270.1:c.1024-212T>C
ENST00000273783.7:c.1157-212T>C	ENSP00000273783.3:n.1157-212T>C
ENST00000432982.5:c.246-524T>C
ENST00000444495.1:c.1157-212T>C	ENSP00000409142.1:n.1157-212T>C
ENST00000479833.1:n.358-212T>C
ENST00000481054.5:n.1251-212T>C
ENST00000491144.5:n.1661-212T>C
ENST00000492773.5:n.40-212T>C
NM_003907.2:c.1157-212T>C	NP_003898.2:n.1157-212T>C
XM_011513265.1:c.407-212T>C	XP_011511567.1:n.407-212T>C
XM_011513266.1:c.320-212T>C	XP_011511568.1:n.320-212T>C
XR_924208.1:n.2108-212T>C
NM_003907.3:c.1157-212T>C MANE Select	NP_003898.2:n.1157-212T>C
XM_011513266.3:c.320-212T>C	XP_011511568.1:n.320-212T>C
XR_001740352.2:n.1520-212T>C
XR_001740353.2:n.1520-212T>C
XR_924208.2:n.1520-212T>C