Canonical Allele Identifier: CA437147739

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183859723G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184141935G>C , CM000665.2:g.184141935G>C	GRCh38
NC_000003.11:g.183859723G>C , CM000665.1:g.183859723G>C	GRCh37
NC_000003.10:g.185342417G>C	NCBI36
NG_015826.1:g.11914G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1190G>C
ENST00000468748.7:n.1410G>C
ENST00000484154.2:n.1397G>C
ENST00000491008.6:n.1915G>C
ENST00000492226.2:n.1434G>C
ENST00000492773.6:c.921G>C
ENST00000647636.1:c.*16G>C	ENSP00000497505.1:n.*16G>C
ENST00000647909.1:c.1191G>C	ENSP00000498164.1:p.Val397=
ENST00000648145.1:c.939G>C
ENST00000648189.1:c.985G>C
ENST00000648256.1:c.1139G>C	ENSP00000497356.1:n.1139G>C
ENST00000648314.1:c.*286G>C	ENSP00000496920.1:n.*286G>C
ENST00000648599.1:c.*450G>C	ENSP00000497159.1:n.*450G>C
ENST00000648630.1:c.1046G>C	ENSP00000497887.1:p.Trp349Ser
ENST00000648682.1:c.*7G>C	ENSP00000498185.1:n.*7G>C
ENST00000648882.1:c.*993G>C	ENSP00000497603.1:n.*993G>C
ENST00000648890.1:c.1167G>C	ENSP00000497503.1:p.Val389=
ENST00000648915.2:c.1167G>C MANE Select	ENSP00000497160.1:p.Val389=
ENST00000649545.1:c.588G>C
ENST00000649688.1:c.*460G>C	ENSP00000497097.1:n.*460G>C
ENST00000649814.1:n.1216G>C
ENST00000650270.1:c.1034G>C
ENST00000273783.7:c.1167G>C	ENSP00000273783.3:p.Val389=
ENST00000432982.5:c.246-302G>C
ENST00000444495.1:c.1167G>C	ENSP00000409142.1:p.Val389=
ENST00000479833.1:n.368G>C
ENST00000481054.5:n.1261G>C
ENST00000491144.5:n.1671G>C
ENST00000492773.5:n.50G>C
NM_003907.2:c.1167G>C	NP_003898.2:p.Val389=
XM_011513265.1:c.417G>C	XP_011511567.1:p.Val139=
XM_011513266.1:c.330G>C	XP_011511568.1:p.Val110=
XR_924208.1:n.2118G>C
NM_003907.3:c.1167G>C MANE Select	NP_003898.2:p.Val389=
XM_011513266.3:c.330G>C	XP_011511568.1:p.Val110=
XR_001740352.2:n.1530G>C
XR_001740353.2:n.1530G>C
XR_924208.2:n.1530G>C