Canonical Allele Identifier: CA355382255

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855747C>T (hg19) ; chr3:g.184137959C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137959C>T , CM000665.2:g.184137959C>T	GRCh38
NC_000003.11:g.183855747C>T , CM000665.1:g.183855747C>T	GRCh37
NC_000003.10:g.185338441C>T	NCBI36
NG_015826.1:g.7938C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.591C>T
ENST00000468748.7:n.551C>T
ENST00000484154.2:n.1189C>T
ENST00000491008.6:n.1316C>T
ENST00000492226.2:n.565C>T
ENST00000492773.6:c.300C>T
ENST00000647636.1:c.568C>T	ENSP00000497505.1:p.Pro190Ser
ENST00000647909.1:c.592C>T	ENSP00000498164.1:p.Pro198Ser
ENST00000648145.1:c.336C>T
ENST00000648189.1:c.318C>T
ENST00000648256.1:c.517C>T	ENSP00000497356.1:p.Pro173Ser
ENST00000648314.1:c.568C>T	ENSP00000496920.1:p.Pro190Ser
ENST00000648599.1:c.568C>T	ENSP00000497159.1:p.Pro190Ser
ENST00000648630.1:c.562C>T	ENSP00000497887.1:p.Pro188Ser
ENST00000648682.1:c.568C>T	ENSP00000498185.1:p.Pro190Ser
ENST00000648882.1:c.*394C>T	ENSP00000497603.1:n.*394C>T
ENST00000648890.1:c.568C>T	ENSP00000497503.1:p.Pro190Ser
ENST00000648915.2:c.568C>T MANE Select	ENSP00000497160.1:p.Pro190Ser
ENST00000649545.1:c.302C>T
ENST00000649688.1:c.568C>T	ENSP00000497097.1:p.Pro190Ser
ENST00000649814.1:n.617C>T
ENST00000650270.1:c.435C>T
ENST00000273783.7:c.568C>T	ENSP00000273783.3:p.Pro190Ser
ENST00000432982.5:c.245+1284C>T
ENST00000444495.1:c.568C>T	ENSP00000409142.1:p.Pro190Ser
ENST00000468748.5:n.21C>T
ENST00000481054.5:n.569C>T
ENST00000491008.5:n.532C>T
ENST00000491144.5:n.1008C>T
ENST00000498831.1:n.523C>T
NM_003907.2:c.568C>T	NP_003898.2:p.Pro190Ser
XR_924208.1:n.1519C>T
NM_003907.3:c.568C>T MANE Select	NP_003898.2:p.Pro190Ser
XM_011513266.3:c.-334C>T	XP_011511568.1:n.-334C>T
XR_001740352.2:n.931C>T
XR_001740353.2:n.931C>T
XR_924208.2:n.931C>T