Canonical Allele Identifier: CA534630087

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs1265751150
• gnomAD v2: 2-88874632-GAAGGA-G
• MyVariant Identifiers: chr2:g.88874633_88874637del (hg19) ; chr2:g.88575115_88575119del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575115_88575119del , CM000664.2:g.88575115_88575119del	GRCh38
NC_000002.11:g.88874633_88874637del , CM000664.1:g.88874633_88874637del	GRCh37
NC_000002.10:g.88655748_88655752del	NCBI36
NG_016424.1:g.57458_57462del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2192_2196del
ENST00000682276.1:n.1809_1813del
ENST00000682892.1:c.1911_1915del	ENSP00000507214.1:p.Pro638Ter
ENST00000682952.1:n.2003_2007del
ENST00000684455.1:c.1577_1581del
ENST00000684642.1:c.1761_1765del	ENSP00000507355.1:p.Pro588Ter
ENST00000684740.1:n.2542_2546del
ENST00000303236.9:c.2364_2368del MANE Select	ENSP00000307235.3:p.Pro789Ter
ENST00000652099.1:c.2558_2562del
ENST00000652736.1:n.2240_2244del
ENST00000303236.7:c.2364_2368del	ENSP00000307235.3:p.Pro789Ter
ENST00000415570.1:c.2001_2005del	ENSP00000412076.1:p.Pro668Ter
ENST00000419748.5:c.1911_1915del	ENSP00000408325.1:p.Pro638Ter
ENST00000470706.1:n.49-42_49-38del
NM_001313915.1:c.1911_1915del	NP_001300844.1:p.Pro638Ter
NM_004836.5:c.2364_2368del	NP_004827.4:p.Pro789Ter
NM_004836.6:c.2364_2368del	NP_004827.4:p.Pro789Ter
NR_110236.1:n.1252_1256del
XM_005264649.3:c.1680_1684del	XP_005264706.1:p.Pro561Ter
XM_017005376.2:c.1680_1684del	XP_016860865.1:p.Pro561Ter
NM_004836.7:c.2364_2368del MANE Select	NP_004827.4:p.Pro789Ter
NM_001313915.2:c.1911_1915del	NP_001300844.1:p.Pro638Ter