Canonical Allele Identifier: CA437146608

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855959G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138171G>C , CM000665.2:g.184138171G>C	GRCh38
NC_000003.11:g.183855959G>C , CM000665.1:g.183855959G>C	GRCh37
NC_000003.10:g.185338653G>C	NCBI36
NG_015826.1:g.8150G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.713G>C
ENST00000468748.7:n.673G>C
ENST00000484154.2:n.1311G>C
ENST00000491008.6:n.1438G>C
ENST00000492226.2:n.687G>C
ENST00000492773.6:c.444G>C
ENST00000647636.1:c.690G>C	ENSP00000497505.1:p.Leu230=
ENST00000647909.1:c.714G>C	ENSP00000498164.1:p.Leu238=
ENST00000648145.1:c.458G>C
ENST00000648189.1:c.440G>C
ENST00000648256.1:c.639G>C	ENSP00000497356.1:p.Leu213=
ENST00000648314.1:c.690G>C	ENSP00000496920.1:p.Leu230=
ENST00000648599.1:c.690G>C	ENSP00000497159.1:p.Leu230=
ENST00000648630.1:c.684G>C	ENSP00000497887.1:p.Leu228=
ENST00000648682.1:c.690G>C	ENSP00000498185.1:p.Leu230=
ENST00000648882.1:c.*516G>C	ENSP00000497603.1:n.*516G>C
ENST00000648890.1:c.690G>C	ENSP00000497503.1:p.Leu230=
ENST00000648915.2:c.690G>C MANE Select	ENSP00000497160.1:p.Leu230=
ENST00000649545.1:c.424G>C
ENST00000649688.1:c.690G>C	ENSP00000497097.1:p.Leu230=
ENST00000649814.1:n.739G>C
ENST00000650270.1:c.557G>C
ENST00000273783.7:c.690G>C	ENSP00000273783.3:p.Leu230=
ENST00000432982.5:c.245+1496G>C
ENST00000444495.1:c.690G>C	ENSP00000409142.1:p.Leu230=
ENST00000468748.5:n.143G>C
ENST00000479833.1:n.6G>C
ENST00000481054.5:n.691G>C
ENST00000491008.5:n.654G>C
ENST00000491144.5:n.1130G>C
NM_003907.2:c.690G>C	NP_003898.2:p.Leu230=
XR_924208.1:n.1641G>C
NM_003907.3:c.690G>C MANE Select	NP_003898.2:p.Leu230=
XM_011513266.3:c.-212G>C	XP_011511568.1:n.-212G>C
XR_001740352.2:n.1053G>C
XR_001740353.2:n.1053G>C
XR_924208.2:n.1053G>C