Canonical Allele Identifier: CA532236267

Gene: EIF2AK2

Linked Data

• dbSNP Id: rs1248000408
• gnomAD v2: 2-37376591-A-G
• gnomAD v3: 2-37149448-A-G
• gnomAD v4: 2-37149448-A-G
• MyVariant Identifiers: chr2:g.37376591A>G (hg19) ; chr2:g.37149448A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.37149448A>G , CM000664.2:g.37149448A>G	GRCh38
NC_000002.11:g.37376591A>G , CM000664.1:g.37376591A>G	GRCh37
NC_000002.10:g.37230095A>G	NCBI36
NG_030351.1:g.12600T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233057.9:c.-183-425T>C MANE Select	ENSP00000233057.4:n.-183-425T>C
ENST00000411537.7:n.29-425T>C
ENST00000679507.1:c.-16-1626T>C	ENSP00000506024.1:n.-16-1626T>C
ENST00000679979.1:c.-183-425T>C	ENSP00000506455.1:n.-183-425T>C
ENST00000680273.1:c.-183-425T>C	ENSP00000506203.1:n.-183-425T>C
ENST00000681329.1:n.157-425T>C
ENST00000681463.1:c.-75-533T>C	ENSP00000505138.1:n.-75-533T>C
ENST00000681507.1:c.-99-509T>C	ENSP00000505772.1:n.-99-509T>C
ENST00000233057.8:c.-183-425T>C	ENSP00000233057.4:n.-183-425T>C
ENST00000390013.3:c.-99-509T>C	ENSP00000374663.3:n.-99-509T>C
ENST00000395127.6:c.-417-191T>C	ENSP00000378559.2:n.-417-191T>C
ENST00000411537.6:c.-75-533T>C	ENSP00000393921.2:n.-75-533T>C
NM_001135651.2:c.-183-425T>C	NP_001129123.1:n.-183-425T>C
NM_002759.3:c.-417-191T>C	NP_002750.1:n.-417-191T>C
XM_011532987.1:c.-99-509T>C	XP_011531289.1:n.-99-509T>C
XM_011532987.2:c.-99-509T>C	XP_011531289.1:n.-99-509T>C
XM_017004503.1:c.-183-425T>C	XP_016859992.1:n.-183-425T>C
NM_001135651.3:c.-183-425T>C MANE Select	NP_001129123.1:n.-183-425T>C
NM_002759.4:c.-417-191T>C	NP_002750.1:n.-417-191T>C