Canonical Allele Identifier: CA45469281

Gene: EIF2AK2 ARL14EPP1

Linked Data

• dbSNP Id: rs554538643
• gnomAD v2: 2-37376211-G-T
• gnomAD v3: 2-37149068-G-T
• gnomAD v4: 2-37149068-G-T
• MyVariant Identifiers: chr2:g.37376211G>T (hg19) ; chr2:g.37149068G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.37149068G>T , CM000664.2:g.37149068G>T	GRCh38
NC_000002.11:g.37376211G>T , CM000664.1:g.37376211G>T	GRCh37
NC_000002.10:g.37229715G>T	NCBI36
NG_030351.1:g.12980C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000233057.9:c.-183-45C>A (EIF2AK2) MANE Select	ENSP00000233057.4:n.-183-45C>A
ENST00000411537.7:n.29-45C>A (EIF2AK2)
ENST00000679507.1:c.-16-1246C>A (EIF2AK2)	ENSP00000506024.1:n.-16-1246C>A
ENST00000679979.1:c.-183-45C>A (EIF2AK2)	ENSP00000506455.1:n.-183-45C>A
ENST00000680273.1:c.-183-45C>A (EIF2AK2)	ENSP00000506203.1:n.-183-45C>A
ENST00000681329.1:n.157-45C>A (EIF2AK2)
ENST00000681463.1:c.-75-153C>A (EIF2AK2)	ENSP00000505138.1:n.-75-153C>A
ENST00000681507.1:c.-99-129C>A (EIF2AK2)	ENSP00000505772.1:n.-99-129C>A
ENST00000233057.8:c.-183-45C>A (EIF2AK2)	ENSP00000233057.4:n.-183-45C>A
ENST00000390013.3:c.-99-129C>A (EIF2AK2)	ENSP00000374663.3:n.-99-129C>A
ENST00000395127.6:c.-228C>A (EIF2AK2)	ENSP00000378559.2:n.-228C>A
ENST00000411537.6:c.-75-153C>A (EIF2AK2)	ENSP00000393921.2:n.-75-153C>A
ENST00000412776.1:n.539G>T (ARL14EPP1)
NM_001135651.2:c.-183-45C>A (EIF2AK2)	NP_001129123.1:n.-183-45C>A
NM_002759.3:c.-228C>A (EIF2AK2)	NP_002750.1:n.-228C>A
XM_011532987.1:c.-99-129C>A (EIF2AK2)	XP_011531289.1:n.-99-129C>A
XM_011532987.2:c.-99-129C>A (EIF2AK2)	XP_011531289.1:n.-99-129C>A
XM_017004503.1:c.-183-45C>A (EIF2AK2)	XP_016859992.1:n.-183-45C>A
NM_001135651.3:c.-183-45C>A (EIF2AK2) MANE Select	NP_001129123.1:n.-183-45C>A
NM_002759.4:c.-228C>A (EIF2AK2)	NP_002750.1:n.-228C>A