Canonical Allele Identifier: CA45448820

Gene: EIF2AK2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.37127006G>A , CM000664.2:g.37127006G>A	GRCh38
NC_000002.11:g.37354149G>A , CM000664.1:g.37354149G>A	GRCh37
NC_000002.10:g.37207653G>A	NCBI36
NG_030351.1:g.35042C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001135651.3:c.786-595C>T MANE Select	NP_001129123.1:n.786-595C>T
ENST00000233057.9:c.786-595C>T MANE Select	ENSP00000233057.4:n.786-595C>T
NM_001135651.2:c.786-595C>T	NP_001129123.1:n.786-595C>T
NM_001135652.2:c.786-4342C>T	NP_001129124.1:n.786-4342C>T
NM_002759.3:c.786-595C>T	NP_002750.1:n.786-595C>T
NM_002759.4:c.786-595C>T	NP_002750.1:n.786-595C>T
ENST00000233057.8:c.786-595C>T	ENSP00000233057.4:n.786-595C>T
ENST00000395127.6:c.786-595C>T	ENSP00000378559.2:n.786-595C>T
ENST00000405334.5:c.786-4342C>T	ENSP00000385014.1:n.786-4342C>T
ENST00000411537.7:n.997-595C>T
ENST00000647926.1:c.786-595C>T	ENSP00000497534.1:n.786-595C>T
ENST00000679507.1:c.786-595C>T	ENSP00000506024.1:n.786-595C>T
ENST00000679979.1:c.786-595C>T	ENSP00000506455.1:n.786-595C>T
ENST00000680273.1:c.615-595C>T	ENSP00000506203.1:n.615-595C>T
ENST00000681329.1:n.1125-595C>T
ENST00000681463.1:c.786-595C>T	ENSP00000505138.1:n.786-595C>T
ENST00000681507.1:c.786-595C>T	ENSP00000505772.1:n.786-595C>T
ENST00000681516.1:c.786-595C>T	ENSP00000506573.1:n.786-595C>T
XM_011532987.1:c.786-595C>T	XP_011531289.1:n.786-595C>T
XM_011532987.2:c.786-595C>T	XP_011531289.1:n.786-595C>T
XM_017004503.1:c.786-595C>T	XP_016859992.1:n.786-595C>T