Canonical Allele Identifier: CA437147952

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183859837A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184142049A>C , CM000665.2:g.184142049A>C	GRCh38
NC_000003.11:g.183859837A>C , CM000665.1:g.183859837A>C	GRCh37
NC_000003.10:g.185342531A>C	NCBI36
NG_015826.1:g.12028A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1304A>C
ENST00000468748.7:n.1524A>C
ENST00000484154.2:n.1511A>C
ENST00000491008.6:n.2029A>C
ENST00000492226.2:n.1548A>C
ENST00000492773.6:c.1035A>C
ENST00000647636.1:c.*130A>C	ENSP00000497505.1:n.*130A>C
ENST00000647909.1:c.1305A>C	ENSP00000498164.1:p.Pro435=
ENST00000648145.1:c.1053A>C
ENST00000648189.1:c.1099A>C
ENST00000648256.1:c.1253A>C	ENSP00000497356.1:n.1253A>C
ENST00000648314.1:c.*400A>C	ENSP00000496920.1:n.*400A>C
ENST00000648599.1:c.*564A>C	ENSP00000497159.1:n.*564A>C
ENST00000648630.1:c.1160A>C	ENSP00000497887.1:n.1160A>C
ENST00000648682.1:c.*121A>C	ENSP00000498185.1:n.*121A>C
ENST00000648882.1:c.*1107A>C	ENSP00000497603.1:n.*1107A>C
ENST00000648890.1:c.1281A>C	ENSP00000497503.1:p.Pro427=
ENST00000648915.2:c.1281A>C MANE Select	ENSP00000497160.1:p.Pro427=
ENST00000649545.1:c.702A>C
ENST00000649688.1:c.*574A>C	ENSP00000497097.1:n.*574A>C
ENST00000649814.1:n.1330A>C
ENST00000650270.1:c.1148A>C
ENST00000273783.7:c.1281A>C	ENSP00000273783.3:p.Pro427=
ENST00000432982.5:c.246-188A>C
ENST00000444495.1:c.1281A>C	ENSP00000409142.1:p.Pro427=
ENST00000481054.5:n.1375A>C
ENST00000491144.5:n.1785A>C
ENST00000492773.5:n.164A>C
NM_003907.2:c.1281A>C	NP_003898.2:p.Pro427=
XM_011513265.1:c.531A>C	XP_011511567.1:p.Pro177=
XM_011513266.1:c.444A>C	XP_011511568.1:p.Pro148=
XR_924208.1:n.2232A>C
NM_003907.3:c.1281A>C MANE Select	NP_003898.2:p.Pro427=
XM_011513266.3:c.444A>C	XP_011511568.1:p.Pro148=
XR_001740352.2:n.1644A>C
XR_001740353.2:n.1644A>C
XR_924208.2:n.1644A>C