Canonical Allele Identifier: CA425671207

Gene: EIF2AK2 ARL14EPP1

Linked Data

• MyVariant Identifiers: chr2:g.37376393T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.37149250T>A , CM000664.2:g.37149250T>A	GRCh38
NC_000002.11:g.37376393T>A , CM000664.1:g.37376393T>A	GRCh37
NC_000002.10:g.37229897T>A	NCBI36
NG_030351.1:g.12798A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233057.9:c.-183-227A>T (EIF2AK2) MANE Select	ENSP00000233057.4:n.-183-227A>T
ENST00000411537.7:n.29-227A>T (EIF2AK2)
ENST00000679507.1:c.-16-1428A>T (EIF2AK2)	ENSP00000506024.1:n.-16-1428A>T
ENST00000679979.1:c.-183-227A>T (EIF2AK2)	ENSP00000506455.1:n.-183-227A>T
ENST00000680273.1:c.-183-227A>T (EIF2AK2)	ENSP00000506203.1:n.-183-227A>T
ENST00000681329.1:n.157-227A>T (EIF2AK2)
ENST00000681463.1:c.-75-335A>T (EIF2AK2)	ENSP00000505138.1:n.-75-335A>T
ENST00000681507.1:c.-99-311A>T (EIF2AK2)	ENSP00000505772.1:n.-99-311A>T
ENST00000233057.8:c.-183-227A>T (EIF2AK2)	ENSP00000233057.4:n.-183-227A>T
ENST00000390013.3:c.-99-311A>T (EIF2AK2)	ENSP00000374663.3:n.-99-311A>T
ENST00000395127.6:c.-410A>T (EIF2AK2)	ENSP00000378559.2:n.-410A>T
ENST00000411537.6:c.-75-335A>T (EIF2AK2)	ENSP00000393921.2:n.-75-335A>T
ENST00000412776.1:n.721T>A (ARL14EPP1)
NM_001135651.2:c.-183-227A>T (EIF2AK2)	NP_001129123.1:n.-183-227A>T
NM_002759.3:c.-410A>T (EIF2AK2)	NP_002750.1:n.-410A>T
XM_011532987.1:c.-99-311A>T (EIF2AK2)	XP_011531289.1:n.-99-311A>T
XM_011532987.2:c.-99-311A>T (EIF2AK2)	XP_011531289.1:n.-99-311A>T
XM_017004503.1:c.-183-227A>T (EIF2AK2)	XP_016859992.1:n.-183-227A>T
NM_001135651.3:c.-183-227A>T (EIF2AK2) MANE Select	NP_001129123.1:n.-183-227A>T
NM_002759.4:c.-410A>T (EIF2AK2)	NP_002750.1:n.-410A>T