Canonical Allele Identifier: CA355389516

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183860064G>C (hg19) ; chr3:g.184142276G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184142276G>C , CM000665.2:g.184142276G>C	GRCh38
NC_000003.11:g.183860064G>C , CM000665.1:g.183860064G>C	GRCh37
NC_000003.10:g.185342758G>C	NCBI36
NG_015826.1:g.12255G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1365G>C
ENST00000468748.7:n.1585G>C
ENST00000484154.2:n.1572G>C
ENST00000491008.6:n.2090G>C
ENST00000492226.2:n.1609G>C
ENST00000492773.6:c.1096G>C
ENST00000647636.1:c.*191G>C	ENSP00000497505.1:n.*191G>C
ENST00000647909.1:c.1366G>C	ENSP00000498164.1:p.Val456Leu
ENST00000648145.1:c.1114G>C
ENST00000648189.1:c.1160G>C
ENST00000648256.1:c.1314G>C	ENSP00000497356.1:n.1314G>C
ENST00000648314.1:c.*461G>C	ENSP00000496920.1:n.*461G>C
ENST00000648599.1:c.*625G>C	ENSP00000497159.1:n.*625G>C
ENST00000648630.1:c.1221G>C	ENSP00000497887.1:n.1221G>C
ENST00000648682.1:c.*182G>C	ENSP00000498185.1:n.*182G>C
ENST00000648882.1:c.*1168G>C	ENSP00000497603.1:n.*1168G>C
ENST00000648890.1:c.1342G>C	ENSP00000497503.1:p.Val448Leu
ENST00000648915.2:c.1342G>C MANE Select	ENSP00000497160.1:p.Val448Leu
ENST00000649545.1:c.724-22G>C
ENST00000649688.1:c.*635G>C	ENSP00000497097.1:n.*635G>C
ENST00000649814.1:n.1391G>C
ENST00000650270.1:c.1209G>C
ENST00000273783.7:c.1342G>C	ENSP00000273783.3:p.Val448Leu
ENST00000432982.5:c.285G>C
ENST00000444495.1:c.1342G>C	ENSP00000409142.1:p.Val448Leu
ENST00000479250.1:n.169G>C
ENST00000481054.5:n.1436G>C
ENST00000491144.5:n.1846G>C
ENST00000492773.5:n.225G>C
NM_003907.2:c.1342G>C	NP_003898.2:p.Val448Leu
XM_011513265.1:c.592G>C	XP_011511567.1:p.Val198Leu
XM_011513266.1:c.505G>C	XP_011511568.1:p.Val169Leu
XR_924208.1:n.2293G>C
NM_003907.3:c.1342G>C MANE Select	NP_003898.2:p.Val448Leu
XM_011513266.3:c.505G>C	XP_011511568.1:p.Val169Leu
XR_001740352.2:n.1705G>C
XR_001740353.2:n.1705G>C
XR_924208.2:n.1705G>C