Canonical Allele Identifier: CA425671168
Gene: EIF2AK2 HGNC NCBI
ARL14EPP1 HGNC NCBI

Linked Data

gnomAD v4: 2-37149238-A-T
MyVariant Identifiers: chr2:g.37376381A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.37149238A>T , CM000664.2:g.37149238A>T GRCh38
NC_000002.11:g.37376381A>T , CM000664.1:g.37376381A>T GRCh37
NC_000002.10:g.37229885A>T NCBI36
NG_030351.1:g.12810T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233057.9:c.-183-215T>A (EIF2AK2) MANE Select ENSP00000233057.4:n.-183-215T>A
ENST00000411537.7:n.29-215T>A (EIF2AK2)
ENST00000679507.1:c.-16-1416T>A (EIF2AK2) ENSP00000506024.1:n.-16-1416T>A
ENST00000679979.1:c.-183-215T>A (EIF2AK2) ENSP00000506455.1:n.-183-215T>A
ENST00000680273.1:c.-183-215T>A (EIF2AK2) ENSP00000506203.1:n.-183-215T>A
ENST00000681329.1:n.157-215T>A (EIF2AK2)
ENST00000681463.1:c.-75-323T>A (EIF2AK2) ENSP00000505138.1:n.-75-323T>A
ENST00000681507.1:c.-99-299T>A (EIF2AK2) ENSP00000505772.1:n.-99-299T>A
ENST00000233057.8:c.-183-215T>A (EIF2AK2) ENSP00000233057.4:n.-183-215T>A
ENST00000390013.3:c.-99-299T>A (EIF2AK2) ENSP00000374663.3:n.-99-299T>A
ENST00000395127.6:c.-398T>A (EIF2AK2) ENSP00000378559.2:n.-398T>A
ENST00000411537.6:c.-75-323T>A (EIF2AK2) ENSP00000393921.2:n.-75-323T>A
ENST00000412776.1:n.709A>T (ARL14EPP1)
NM_001135651.2:c.-183-215T>A (EIF2AK2) NP_001129123.1:n.-183-215T>A
NM_002759.3:c.-398T>A (EIF2AK2) NP_002750.1:n.-398T>A
XM_011532987.1:c.-99-299T>A (EIF2AK2) XP_011531289.1:n.-99-299T>A
XM_011532987.2:c.-99-299T>A (EIF2AK2) XP_011531289.1:n.-99-299T>A
XM_017004503.1:c.-183-215T>A (EIF2AK2) XP_016859992.1:n.-183-215T>A
NM_001135651.3:c.-183-215T>A (EIF2AK2) MANE Select NP_001129123.1:n.-183-215T>A
NM_002759.4:c.-398T>A (EIF2AK2) NP_002750.1:n.-398T>A