Canonical Allele Identifier: CA425670531
Gene: EIF2AK2 HGNC NCBI
ARL14EPP1 HGNC NCBI

Linked Data

gnomAD v4: 2-37149049-T-C
MyVariant Identifiers: chr2:g.37376192T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.37149049T>C , CM000664.2:g.37149049T>C GRCh38
NC_000002.11:g.37376192T>C , CM000664.1:g.37376192T>C GRCh37
NC_000002.10:g.37229696T>C NCBI36
NG_030351.1:g.12999A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000233057.9:c.-183-26A>G (EIF2AK2) MANE Select ENSP00000233057.4:n.-183-26A>G
ENST00000411537.7:n.29-26A>G (EIF2AK2)
ENST00000679507.1:c.-16-1227A>G (EIF2AK2) ENSP00000506024.1:n.-16-1227A>G
ENST00000679979.1:c.-183-26A>G (EIF2AK2) ENSP00000506455.1:n.-183-26A>G
ENST00000680273.1:c.-183-26A>G (EIF2AK2) ENSP00000506203.1:n.-183-26A>G
ENST00000681329.1:n.157-26A>G (EIF2AK2)
ENST00000681463.1:c.-75-134A>G (EIF2AK2) ENSP00000505138.1:n.-75-134A>G
ENST00000681507.1:c.-99-110A>G (EIF2AK2) ENSP00000505772.1:n.-99-110A>G
ENST00000233057.8:c.-183-26A>G (EIF2AK2) ENSP00000233057.4:n.-183-26A>G
ENST00000390013.3:c.-99-110A>G (EIF2AK2) ENSP00000374663.3:n.-99-110A>G
ENST00000395127.6:c.-209A>G (EIF2AK2) ENSP00000378559.2:n.-209A>G
ENST00000411537.6:c.-75-134A>G (EIF2AK2) ENSP00000393921.2:n.-75-134A>G
ENST00000412776.1:n.520T>C (ARL14EPP1)
NM_001135651.2:c.-183-26A>G (EIF2AK2) NP_001129123.1:n.-183-26A>G
NM_002759.3:c.-209A>G (EIF2AK2) NP_002750.1:n.-209A>G
XM_011532987.1:c.-99-110A>G (EIF2AK2) XP_011531289.1:n.-99-110A>G
XM_011532987.2:c.-99-110A>G (EIF2AK2) XP_011531289.1:n.-99-110A>G
XM_017004503.1:c.-183-26A>G (EIF2AK2) XP_016859992.1:n.-183-26A>G
NM_001135651.3:c.-183-26A>G (EIF2AK2) MANE Select NP_001129123.1:n.-183-26A>G
NM_002759.4:c.-209A>G (EIF2AK2) NP_002750.1:n.-209A>G