Canonical Allele Identifier: CA425669912
Gene: EIF2AK2 HGNC NCBI
ARL14EPP1 HGNC NCBI

Linked Data

gnomAD v4: 2-37148863-G-T
MyVariant Identifiers: chr2:g.37376006G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.37148863G>T , CM000664.2:g.37148863G>T GRCh38
NC_000002.11:g.37376006G>T , CM000664.1:g.37376006G>T GRCh37
NC_000002.10:g.37229510G>T NCBI36
NG_030351.1:g.13185C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233057.9:c.-23C>A (EIF2AK2) MANE Select ENSP00000233057.4:n.-23C>A
ENST00000411537.7:n.189C>A (EIF2AK2)
ENST00000647926.1:c.-23C>A (EIF2AK2) ENSP00000497534.1:n.-23C>A
ENST00000679507.1:c.-16-1041C>A (EIF2AK2) ENSP00000506024.1:n.-16-1041C>A
ENST00000679979.1:c.-23C>A (EIF2AK2) ENSP00000506455.1:n.-23C>A
ENST00000680273.1:c.-23C>A (EIF2AK2) ENSP00000506203.1:n.-23C>A
ENST00000681329.1:n.317C>A (EIF2AK2)
ENST00000681463.1:c.-23C>A (EIF2AK2) ENSP00000505138.1:n.-23C>A
ENST00000681507.1:c.-23C>A (EIF2AK2) ENSP00000505772.1:n.-23C>A
ENST00000681516.1:c.-23C>A (EIF2AK2) ENSP00000506573.1:n.-23C>A
ENST00000233057.8:c.-23C>A (EIF2AK2) ENSP00000233057.4:n.-23C>A
ENST00000390013.3:c.-23C>A (EIF2AK2) ENSP00000374663.3:n.-23C>A
ENST00000395127.6:c.-23C>A (EIF2AK2) ENSP00000378559.2:n.-23C>A
ENST00000411537.6:c.-23C>A (EIF2AK2) ENSP00000393921.2:n.-23C>A
ENST00000412776.1:n.334G>T (ARL14EPP1)
NM_001135651.2:c.-23C>A (EIF2AK2) NP_001129123.1:n.-23C>A
NM_002759.3:c.-23C>A (EIF2AK2) NP_002750.1:n.-23C>A
XM_011532987.1:c.-23C>A (EIF2AK2) XP_011531289.1:n.-23C>A
XM_011532987.2:c.-23C>A (EIF2AK2) XP_011531289.1:n.-23C>A
XM_017004503.1:c.-23C>A (EIF2AK2) XP_016859992.1:n.-23C>A
NM_001135651.3:c.-23C>A (EIF2AK2) MANE Select NP_001129123.1:n.-23C>A
NM_002759.4:c.-23C>A (EIF2AK2) NP_002750.1:n.-23C>A