Canonical Allele Identifier: CA355381119

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183853225A>C (hg19) ; chr3:g.184135437A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184135437A>C , CM000665.2:g.184135437A>C	GRCh38
NC_000003.11:g.183853225A>C , CM000665.1:g.183853225A>C	GRCh37
NC_000003.10:g.185335919A>C	NCBI36
NG_015826.1:g.5416A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000432569.2:c.52A>C	ENSP00000414775.1:p.Lys18Gln
ENST00000465218.3:n.75A>C
ENST00000468748.7:n.35A>C
ENST00000471832.2:c.52A>C	ENSP00000497786.1:p.Lys18Gln
ENST00000492226.2:n.49A>C
ENST00000647636.1:c.52A>C	ENSP00000497505.1:p.Lys18Gln
ENST00000647909.1:c.52A>C	ENSP00000498164.1:p.Lys18Gln
ENST00000648256.1:c.1A>C	ENSP00000497356.1:p.Lys1Gln
ENST00000648314.1:c.52A>C	ENSP00000496920.1:p.Lys18Gln
ENST00000648599.1:c.52A>C	ENSP00000497159.1:p.Lys18Gln
ENST00000648630.1:c.46A>C	ENSP00000497887.1:p.Lys16Gln
ENST00000648682.1:c.52A>C	ENSP00000498185.1:p.Lys18Gln
ENST00000648882.1:c.52A>C	ENSP00000497603.1:p.Lys18Gln
ENST00000648890.1:c.52A>C	ENSP00000497503.1:p.Lys18Gln
ENST00000648915.2:c.52A>C MANE Select	ENSP00000497160.1:p.Lys18Gln
ENST00000649688.1:c.52A>C	ENSP00000497097.1:p.Lys18Gln
ENST00000649814.1:n.101A>C
ENST00000273783.7:c.52A>C	ENSP00000273783.3:p.Lys18Gln
ENST00000432569.1:c.52A>C	ENSP00000414775.1:p.Lys18Gln
ENST00000432982.5:c.38A>C
ENST00000444495.1:c.52A>C	ENSP00000409142.1:p.Lys18Gln
ENST00000481054.5:n.53A>C
ENST00000491144.5:n.400A>C
NM_003907.2:c.52A>C	NP_003898.2:p.Lys18Gln
XR_924208.1:n.1003A>C
NM_003907.3:c.52A>C MANE Select	NP_003898.2:p.Lys18Gln
XM_011513266.3:c.-850A>C	XP_011511568.1:n.-850A>C
XR_001740352.2:n.415A>C
XR_001740353.2:n.415A>C
XR_924208.2:n.415A>C