Canonical Allele Identifier: CA355382337

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183855786G>C (hg19) ; chr3:g.184137998G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137998G>C , CM000665.2:g.184137998G>C	GRCh38
NC_000003.11:g.183855786G>C , CM000665.1:g.183855786G>C	GRCh37
NC_000003.10:g.185338480G>C	NCBI36
NG_015826.1:g.7977G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.630G>C
ENST00000468748.7:n.590G>C
ENST00000484154.2:n.1228G>C
ENST00000491008.6:n.1355G>C
ENST00000492226.2:n.604G>C
ENST00000492773.6:c.339G>C
ENST00000647636.1:c.607G>C	ENSP00000497505.1:p.Val203Leu
ENST00000647909.1:c.631G>C	ENSP00000498164.1:p.Val211Leu
ENST00000648145.1:c.375G>C
ENST00000648189.1:c.357G>C
ENST00000648256.1:c.556G>C	ENSP00000497356.1:p.Val186Leu
ENST00000648314.1:c.607G>C	ENSP00000496920.1:p.Val203Leu
ENST00000648599.1:c.607G>C	ENSP00000497159.1:p.Val203Leu
ENST00000648630.1:c.601G>C	ENSP00000497887.1:p.Val201Leu
ENST00000648682.1:c.607G>C	ENSP00000498185.1:p.Val203Leu
ENST00000648882.1:c.*433G>C	ENSP00000497603.1:n.*433G>C
ENST00000648890.1:c.607G>C	ENSP00000497503.1:p.Val203Leu
ENST00000648915.2:c.607G>C MANE Select	ENSP00000497160.1:p.Val203Leu
ENST00000649545.1:c.341G>C
ENST00000649688.1:c.607G>C	ENSP00000497097.1:p.Val203Leu
ENST00000649814.1:n.656G>C
ENST00000650270.1:c.474G>C
ENST00000273783.7:c.607G>C	ENSP00000273783.3:p.Val203Leu
ENST00000432982.5:c.245+1323G>C
ENST00000444495.1:c.607G>C	ENSP00000409142.1:p.Val203Leu
ENST00000468748.5:n.60G>C
ENST00000481054.5:n.608G>C
ENST00000491008.5:n.571G>C
ENST00000491144.5:n.1047G>C
ENST00000498831.1:n.562G>C
NM_003907.2:c.607G>C	NP_003898.2:p.Val203Leu
XR_924208.1:n.1558G>C
NM_003907.3:c.607G>C MANE Select	NP_003898.2:p.Val203Leu
XM_011513266.3:c.-295G>C	XP_011511568.1:n.-295G>C
XR_001740352.2:n.970G>C
XR_001740353.2:n.970G>C
XR_924208.2:n.970G>C