Canonical Allele Identifier: CA2749522071

Gene: EIF2AK2 ARL14EPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.37149239_37149240del , CM000664.2:g.37149239_37149240del	GRCh38
NC_000002.11:g.37376382_37376383del , CM000664.1:g.37376382_37376383del	GRCh37
NC_000002.10:g.37229886_37229887del	NCBI36
NG_030351.1:g.12808_12809del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233057.9:c.-183-217_-183-216del (EIF2AK2) MANE Select	ENSP00000233057.4:n.-183-217_-183-216del
ENST00000411537.7:n.29-217_29-216del (EIF2AK2)
ENST00000679507.1:c.-16-1418_-16-1417del (EIF2AK2)	ENSP00000506024.1:n.-16-1418_-16-1417del
ENST00000679979.1:c.-183-217_-183-216del (EIF2AK2)	ENSP00000506455.1:n.-183-217_-183-216del
ENST00000680273.1:c.-183-217_-183-216del (EIF2AK2)	ENSP00000506203.1:n.-183-217_-183-216del
ENST00000681329.1:n.157-217_157-216del (EIF2AK2)
ENST00000681463.1:c.-75-325_-75-324del (EIF2AK2)	ENSP00000505138.1:n.-75-325_-75-324del
ENST00000681507.1:c.-99-301_-99-300del (EIF2AK2)	ENSP00000505772.1:n.-99-301_-99-300del
ENST00000233057.8:c.-183-217_-183-216del (EIF2AK2)	ENSP00000233057.4:n.-183-217_-183-216del
ENST00000390013.3:c.-99-301_-99-300del (EIF2AK2)	ENSP00000374663.3:n.-99-301_-99-300del
ENST00000395127.6:c.-400_-399del (EIF2AK2)	ENSP00000378559.2:n.-400_-399del
ENST00000411537.6:c.-75-325_-75-324del (EIF2AK2)	ENSP00000393921.2:n.-75-325_-75-324del
ENST00000412776.1:n.710_711del (ARL14EPP1)
NM_001135651.2:c.-183-217_-183-216del (EIF2AK2)	NP_001129123.1:n.-183-217_-183-216del
NM_002759.3:c.-400_-399del (EIF2AK2)	NP_002750.1:n.-400_-399del
XM_011532987.1:c.-99-301_-99-300del (EIF2AK2)	XP_011531289.1:n.-99-301_-99-300del
XM_011532987.2:c.-99-301_-99-300del (EIF2AK2)	XP_011531289.1:n.-99-301_-99-300del
XM_017004503.1:c.-183-217_-183-216del (EIF2AK2)	XP_016859992.1:n.-183-217_-183-216del
NM_001135651.3:c.-183-217_-183-216del (EIF2AK2) MANE Select	NP_001129123.1:n.-183-217_-183-216del
NM_002759.4:c.-400_-399del (EIF2AK2)	NP_002750.1:n.-400_-399del