Canonical Allele Identifier: CA437147973

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183859843T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184142055T>C , CM000665.2:g.184142055T>C	GRCh38
NC_000003.11:g.183859843T>C , CM000665.1:g.183859843T>C	GRCh37
NC_000003.10:g.185342537T>C	NCBI36
NG_015826.1:g.12034T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1310T>C
ENST00000468748.7:n.1530T>C
ENST00000484154.2:n.1517T>C
ENST00000491008.6:n.2035T>C
ENST00000492226.2:n.1554T>C
ENST00000492773.6:c.1041T>C
ENST00000647636.1:c.*136T>C	ENSP00000497505.1:n.*136T>C
ENST00000647909.1:c.1311T>C	ENSP00000498164.1:p.Ser437=
ENST00000648145.1:c.1059T>C
ENST00000648189.1:c.1105T>C
ENST00000648256.1:c.1259T>C	ENSP00000497356.1:n.1259T>C
ENST00000648314.1:c.*406T>C	ENSP00000496920.1:n.*406T>C
ENST00000648599.1:c.*570T>C	ENSP00000497159.1:n.*570T>C
ENST00000648630.1:c.1166T>C	ENSP00000497887.1:n.1166T>C
ENST00000648682.1:c.*127T>C	ENSP00000498185.1:n.*127T>C
ENST00000648882.1:c.*1113T>C	ENSP00000497603.1:n.*1113T>C
ENST00000648890.1:c.1287T>C	ENSP00000497503.1:p.Ser429=
ENST00000648915.2:c.1287T>C MANE Select	ENSP00000497160.1:p.Ser429=
ENST00000649545.1:c.708T>C
ENST00000649688.1:c.*580T>C	ENSP00000497097.1:n.*580T>C
ENST00000649814.1:n.1336T>C
ENST00000650270.1:c.1154T>C
ENST00000273783.7:c.1287T>C	ENSP00000273783.3:p.Ser429=
ENST00000432982.5:c.246-182T>C
ENST00000444495.1:c.1287T>C	ENSP00000409142.1:p.Ser429=
ENST00000481054.5:n.1381T>C
ENST00000491144.5:n.1791T>C
ENST00000492773.5:n.170T>C
NM_003907.2:c.1287T>C	NP_003898.2:p.Ser429=
XM_011513265.1:c.537T>C	XP_011511567.1:p.Ser179=
XM_011513266.1:c.450T>C	XP_011511568.1:p.Ser150=
XR_924208.1:n.2238T>C
NM_003907.3:c.1287T>C MANE Select	NP_003898.2:p.Ser429=
XM_011513266.3:c.450T>C	XP_011511568.1:p.Ser150=
XR_001740352.2:n.1650T>C
XR_001740353.2:n.1650T>C
XR_924208.2:n.1650T>C