Canonical Allele Identifier: CA355382191

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855720A>C (hg19) ; chr3:g.184137932A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137932A>C , CM000665.2:g.184137932A>C	GRCh38
NC_000003.11:g.183855720A>C , CM000665.1:g.183855720A>C	GRCh37
NC_000003.10:g.185338414A>C	NCBI36
NG_015826.1:g.7911A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.564A>C
ENST00000468748.7:n.524A>C
ENST00000484154.2:n.1162A>C
ENST00000491008.6:n.1289A>C
ENST00000492226.2:n.538A>C
ENST00000492773.6:c.273A>C
ENST00000647636.1:c.541A>C	ENSP00000497505.1:p.Met181Leu
ENST00000647909.1:c.565A>C	ENSP00000498164.1:p.Met189Leu
ENST00000648145.1:c.309A>C
ENST00000648189.1:c.291A>C
ENST00000648256.1:c.490A>C	ENSP00000497356.1:p.Met164Leu
ENST00000648314.1:c.541A>C	ENSP00000496920.1:p.Met181Leu
ENST00000648599.1:c.541A>C	ENSP00000497159.1:p.Met181Leu
ENST00000648630.1:c.535A>C	ENSP00000497887.1:p.Met179Leu
ENST00000648682.1:c.541A>C	ENSP00000498185.1:p.Met181Leu
ENST00000648882.1:c.*367A>C	ENSP00000497603.1:n.*367A>C
ENST00000648890.1:c.541A>C	ENSP00000497503.1:p.Met181Leu
ENST00000648915.2:c.541A>C MANE Select	ENSP00000497160.1:p.Met181Leu
ENST00000649545.1:c.275A>C
ENST00000649688.1:c.541A>C	ENSP00000497097.1:p.Met181Leu
ENST00000649814.1:n.590A>C
ENST00000650244.1:c.686A>C	ENSP00000497227.1:n.686A>C
ENST00000650270.1:c.408A>C
ENST00000273783.7:c.541A>C	ENSP00000273783.3:p.Met181Leu
ENST00000432982.5:c.245+1257A>C
ENST00000444495.1:c.541A>C	ENSP00000409142.1:p.Met181Leu
ENST00000481054.5:n.542A>C
ENST00000491008.5:n.505A>C
ENST00000491144.5:n.981A>C
ENST00000498831.1:n.496A>C
NM_003907.2:c.541A>C	NP_003898.2:p.Met181Leu
XR_924208.1:n.1492A>C
NM_003907.3:c.541A>C MANE Select	NP_003898.2:p.Met181Leu
XM_011513266.3:c.-361A>C	XP_011511568.1:n.-361A>C
XR_001740352.2:n.904A>C
XR_001740353.2:n.904A>C
XR_924208.2:n.904A>C