Canonical Allele Identifier: CA2658632518

Gene: EIF2AK2

Linked Data

• gnomAD v4: 2-37148521-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.37148521G>T , CM000664.2:g.37148521G>T	GRCh38
NC_000002.11:g.37375664G>T , CM000664.1:g.37375664G>T	GRCh37
NC_000002.10:g.37229168G>T	NCBI36
NG_030351.1:g.13527C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233057.9:c.-17+336C>A MANE Select	ENSP00000233057.4:n.-17+336C>A
ENST00000411537.7:n.195+336C>A
ENST00000647926.1:c.-17+336C>A	ENSP00000497534.1:n.-17+336C>A
ENST00000679507.1:c.-16-699C>A	ENSP00000506024.1:n.-16-699C>A
ENST00000679979.1:c.-17+336C>A	ENSP00000506455.1:n.-17+336C>A
ENST00000680273.1:c.-17+336C>A	ENSP00000506203.1:n.-17+336C>A
ENST00000681329.1:n.323+336C>A
ENST00000681463.1:c.-17+336C>A	ENSP00000505138.1:n.-17+336C>A
ENST00000681507.1:c.-17+336C>A	ENSP00000505772.1:n.-17+336C>A
ENST00000681516.1:c.-17+336C>A	ENSP00000506573.1:n.-17+336C>A
ENST00000233057.8:c.-17+336C>A	ENSP00000233057.4:n.-17+336C>A
ENST00000390013.3:c.-17+336C>A	ENSP00000374663.3:n.-17+336C>A
ENST00000395127.6:c.-17+336C>A	ENSP00000378559.2:n.-17+336C>A
ENST00000411537.6:c.-17+336C>A	ENSP00000393921.2:n.-17+336C>A
NM_001135651.2:c.-17+336C>A	NP_001129123.1:n.-17+336C>A
NM_002759.3:c.-17+336C>A	NP_002750.1:n.-17+336C>A
XM_011532987.1:c.-17+336C>A	XP_011531289.1:n.-17+336C>A
XM_011532987.2:c.-17+336C>A	XP_011531289.1:n.-17+336C>A
XM_017004503.1:c.-17+336C>A	XP_016859992.1:n.-17+336C>A
NM_001135651.3:c.-17+336C>A MANE Select	NP_001129123.1:n.-17+336C>A
NM_002759.4:c.-17+336C>A	NP_002750.1:n.-17+336C>A