Canonical Allele Identifier: CA1029438242

Gene: EIF2AK2

Linked Data

• dbSNP Id: rs1675665254
• gnomAD v3: 2-37149364-AAG-A
• gnomAD v4: 2-37149364-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.37149366_37149367del , CM000664.2:g.37149366_37149367del	GRCh38
NC_000002.11:g.37376509_37376510del , CM000664.1:g.37376509_37376510del	GRCh37
NC_000002.10:g.37230013_37230014del	NCBI36
NG_030351.1:g.12682_12683del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233057.9:c.-183-343_-183-342del MANE Select	ENSP00000233057.4:n.-183-343_-183-342del
ENST00000411537.7:n.29-343_29-342del
ENST00000679507.1:c.-16-1544_-16-1543del	ENSP00000506024.1:n.-16-1544_-16-1543del
ENST00000679979.1:c.-183-343_-183-342del	ENSP00000506455.1:n.-183-343_-183-342del
ENST00000680273.1:c.-183-343_-183-342del	ENSP00000506203.1:n.-183-343_-183-342del
ENST00000681329.1:n.157-343_157-342del
ENST00000681463.1:c.-75-451_-75-450del	ENSP00000505138.1:n.-75-451_-75-450del
ENST00000681507.1:c.-99-427_-99-426del	ENSP00000505772.1:n.-99-427_-99-426del
ENST00000233057.8:c.-183-343_-183-342del	ENSP00000233057.4:n.-183-343_-183-342del
ENST00000390013.3:c.-99-427_-99-426del	ENSP00000374663.3:n.-99-427_-99-426del
ENST00000395127.6:c.-417-109_-417-108del	ENSP00000378559.2:n.-417-109_-417-108del
ENST00000411537.6:c.-75-451_-75-450del	ENSP00000393921.2:n.-75-451_-75-450del
NM_001135651.2:c.-183-343_-183-342del	NP_001129123.1:n.-183-343_-183-342del
NM_002759.3:c.-417-109_-417-108del	NP_002750.1:n.-417-109_-417-108del
XM_011532987.1:c.-99-427_-99-426del	XP_011531289.1:n.-99-427_-99-426del
XM_011532987.2:c.-99-427_-99-426del	XP_011531289.1:n.-99-427_-99-426del
XM_017004503.1:c.-183-343_-183-342del	XP_016859992.1:n.-183-343_-183-342del
NM_001135651.3:c.-183-343_-183-342del MANE Select	NP_001129123.1:n.-183-343_-183-342del
NM_002759.4:c.-417-109_-417-108del	NP_002750.1:n.-417-109_-417-108del