Canonical Allele Identifier: CA88839992

Gene: EIF2B5

Linked Data

• dbSNP Id: rs953925212
• MyVariant Identifiers: chr3:g.183853227G>C (hg19) ; chr3:g.184135439G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184135439G>C , CM000665.2:g.184135439G>C	GRCh38
NC_000003.11:g.183853227G>C , CM000665.1:g.183853227G>C	GRCh37
NC_000003.10:g.185335921G>C	NCBI36
NG_015826.1:g.5418G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000432569.2:c.54G>C	ENSP00000414775.1:p.Lys18Asn
ENST00000465218.3:n.77G>C
ENST00000468748.7:n.37G>C
ENST00000471832.2:c.54G>C	ENSP00000497786.1:p.Lys18Asn
ENST00000492226.2:n.51G>C
ENST00000647636.1:c.54G>C	ENSP00000497505.1:p.Lys18Asn
ENST00000647909.1:c.54G>C	ENSP00000498164.1:p.Lys18Asn
ENST00000648256.1:c.3G>C	ENSP00000497356.1:p.Lys1Asn
ENST00000648314.1:c.54G>C	ENSP00000496920.1:p.Lys18Asn
ENST00000648599.1:c.54G>C	ENSP00000497159.1:p.Lys18Asn
ENST00000648630.1:c.48G>C	ENSP00000497887.1:p.Lys16Asn
ENST00000648682.1:c.54G>C	ENSP00000498185.1:p.Lys18Asn
ENST00000648882.1:c.54G>C	ENSP00000497603.1:p.Lys18Asn
ENST00000648890.1:c.54G>C	ENSP00000497503.1:p.Lys18Asn
ENST00000648915.2:c.54G>C MANE Select	ENSP00000497160.1:p.Lys18Asn
ENST00000649688.1:c.54G>C	ENSP00000497097.1:p.Lys18Asn
ENST00000649814.1:n.103G>C
ENST00000273783.7:c.54G>C	ENSP00000273783.3:p.Lys18Asn
ENST00000432569.1:c.54G>C	ENSP00000414775.1:p.Lys18Asn
ENST00000432982.5:c.40G>C
ENST00000444495.1:c.54G>C	ENSP00000409142.1:p.Lys18Asn
ENST00000481054.5:n.55G>C
ENST00000491144.5:n.402G>C
NM_003907.2:c.54G>C	NP_003898.2:p.Lys18Asn
XR_924208.1:n.1005G>C
NM_003907.3:c.54G>C MANE Select	NP_003898.2:p.Lys18Asn
XM_011513266.3:c.-848G>C	XP_011511568.1:n.-848G>C
XR_001740352.2:n.417G>C
XR_001740353.2:n.417G>C
XR_924208.2:n.417G>C