Canonical Allele Identifier: CA425670869
Gene: EIF2AK2 HGNC NCBI
ARL14EPP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.37376292A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.37149149A>G , CM000664.2:g.37149149A>G GRCh38
NC_000002.11:g.37376292A>G , CM000664.1:g.37376292A>G GRCh37
NC_000002.10:g.37229796A>G NCBI36
NG_030351.1:g.12899T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000233057.9:c.-183-126T>C (EIF2AK2) MANE Select ENSP00000233057.4:n.-183-126T>C
ENST00000411537.7:n.29-126T>C (EIF2AK2)
ENST00000679507.1:c.-16-1327T>C (EIF2AK2) ENSP00000506024.1:n.-16-1327T>C
ENST00000679979.1:c.-183-126T>C (EIF2AK2) ENSP00000506455.1:n.-183-126T>C
ENST00000680273.1:c.-183-126T>C (EIF2AK2) ENSP00000506203.1:n.-183-126T>C
ENST00000681329.1:n.157-126T>C (EIF2AK2)
ENST00000681463.1:c.-75-234T>C (EIF2AK2) ENSP00000505138.1:n.-75-234T>C
ENST00000681507.1:c.-99-210T>C (EIF2AK2) ENSP00000505772.1:n.-99-210T>C
ENST00000233057.8:c.-183-126T>C (EIF2AK2) ENSP00000233057.4:n.-183-126T>C
ENST00000390013.3:c.-99-210T>C (EIF2AK2) ENSP00000374663.3:n.-99-210T>C
ENST00000395127.6:c.-309T>C (EIF2AK2) ENSP00000378559.2:n.-309T>C
ENST00000411537.6:c.-75-234T>C (EIF2AK2) ENSP00000393921.2:n.-75-234T>C
ENST00000412776.1:n.620A>G (ARL14EPP1)
NM_001135651.2:c.-183-126T>C (EIF2AK2) NP_001129123.1:n.-183-126T>C
NM_002759.3:c.-309T>C (EIF2AK2) NP_002750.1:n.-309T>C
XM_011532987.1:c.-99-210T>C (EIF2AK2) XP_011531289.1:n.-99-210T>C
XM_011532987.2:c.-99-210T>C (EIF2AK2) XP_011531289.1:n.-99-210T>C
XM_017004503.1:c.-183-126T>C (EIF2AK2) XP_016859992.1:n.-183-126T>C
NM_001135651.3:c.-183-126T>C (EIF2AK2) MANE Select NP_001129123.1:n.-183-126T>C
NM_002759.4:c.-309T>C (EIF2AK2) NP_002750.1:n.-309T>C