Canonical Allele Identifier: CA2749522068

Gene: EIF2AK2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.37148523del , CM000664.2:g.37148523del	GRCh38
NC_000002.11:g.37375666del , CM000664.1:g.37375666del	GRCh37
NC_000002.10:g.37229170del	NCBI36
NG_030351.1:g.13526del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233057.9:c.-17+335del MANE Select	ENSP00000233057.4:n.-17+335del
ENST00000411537.7:n.195+335del
ENST00000647926.1:c.-17+335del	ENSP00000497534.1:n.-17+335del
ENST00000679507.1:c.-16-700del	ENSP00000506024.1:n.-16-700del
ENST00000679979.1:c.-17+335del	ENSP00000506455.1:n.-17+335del
ENST00000680273.1:c.-17+335del	ENSP00000506203.1:n.-17+335del
ENST00000681329.1:n.323+335del
ENST00000681463.1:c.-17+335del	ENSP00000505138.1:n.-17+335del
ENST00000681507.1:c.-17+335del	ENSP00000505772.1:n.-17+335del
ENST00000681516.1:c.-17+335del	ENSP00000506573.1:n.-17+335del
ENST00000233057.8:c.-17+335del	ENSP00000233057.4:n.-17+335del
ENST00000390013.3:c.-17+335del	ENSP00000374663.3:n.-17+335del
ENST00000395127.6:c.-17+335del	ENSP00000378559.2:n.-17+335del
ENST00000411537.6:c.-17+335del	ENSP00000393921.2:n.-17+335del
NM_001135651.2:c.-17+335del	NP_001129123.1:n.-17+335del
NM_002759.3:c.-17+335del	NP_002750.1:n.-17+335del
XM_011532987.1:c.-17+335del	XP_011531289.1:n.-17+335del
XM_011532987.2:c.-17+335del	XP_011531289.1:n.-17+335del
XM_017004503.1:c.-17+335del	XP_016859992.1:n.-17+335del
NM_001135651.3:c.-17+335del MANE Select	NP_001129123.1:n.-17+335del
NM_002759.4:c.-17+335del	NP_002750.1:n.-17+335del