Canonical Allele Identifier: CA425671026
Gene: EIF2AK2 HGNC NCBI
ARL14EPP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.37376338T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.37149195T>A , CM000664.2:g.37149195T>A GRCh38
NC_000002.11:g.37376338T>A , CM000664.1:g.37376338T>A GRCh37
NC_000002.10:g.37229842T>A NCBI36
NG_030351.1:g.12853A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233057.9:c.-183-172A>T (EIF2AK2) MANE Select ENSP00000233057.4:n.-183-172A>T
ENST00000411537.7:n.29-172A>T (EIF2AK2)
ENST00000679507.1:c.-16-1373A>T (EIF2AK2) ENSP00000506024.1:n.-16-1373A>T
ENST00000679979.1:c.-183-172A>T (EIF2AK2) ENSP00000506455.1:n.-183-172A>T
ENST00000680273.1:c.-183-172A>T (EIF2AK2) ENSP00000506203.1:n.-183-172A>T
ENST00000681329.1:n.157-172A>T (EIF2AK2)
ENST00000681463.1:c.-75-280A>T (EIF2AK2) ENSP00000505138.1:n.-75-280A>T
ENST00000681507.1:c.-99-256A>T (EIF2AK2) ENSP00000505772.1:n.-99-256A>T
ENST00000233057.8:c.-183-172A>T (EIF2AK2) ENSP00000233057.4:n.-183-172A>T
ENST00000390013.3:c.-99-256A>T (EIF2AK2) ENSP00000374663.3:n.-99-256A>T
ENST00000395127.6:c.-355A>T (EIF2AK2) ENSP00000378559.2:n.-355A>T
ENST00000411537.6:c.-75-280A>T (EIF2AK2) ENSP00000393921.2:n.-75-280A>T
ENST00000412776.1:n.666T>A (ARL14EPP1)
NM_001135651.2:c.-183-172A>T (EIF2AK2) NP_001129123.1:n.-183-172A>T
NM_002759.3:c.-355A>T (EIF2AK2) NP_002750.1:n.-355A>T
XM_011532987.1:c.-99-256A>T (EIF2AK2) XP_011531289.1:n.-99-256A>T
XM_011532987.2:c.-99-256A>T (EIF2AK2) XP_011531289.1:n.-99-256A>T
XM_017004503.1:c.-183-172A>T (EIF2AK2) XP_016859992.1:n.-183-172A>T
NM_001135651.3:c.-183-172A>T (EIF2AK2) MANE Select NP_001129123.1:n.-183-172A>T
NM_002759.4:c.-355A>T (EIF2AK2) NP_002750.1:n.-355A>T