Canonical Allele Identifier: CA768340343

Gene: EIF2AK2

Linked Data

• dbSNP Id: rs1408882290
• gnomAD v3: 2-37149536-T-C
• gnomAD v4: 2-37149536-T-C
• MyVariant Identifiers: chr2:g.37376679T>C (hg19) ; chr2:g.37149536T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.37149536T>C , CM000664.2:g.37149536T>C	GRCh38
NC_000002.11:g.37376679T>C , CM000664.1:g.37376679T>C	GRCh37
NC_000002.10:g.37230183T>C	NCBI36
NG_030351.1:g.12512A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233057.9:c.-183-513A>G MANE Select	ENSP00000233057.4:n.-183-513A>G
ENST00000411537.7:n.29-513A>G
ENST00000679507.1:c.-16-1714A>G	ENSP00000506024.1:n.-16-1714A>G
ENST00000679979.1:c.-183-513A>G	ENSP00000506455.1:n.-183-513A>G
ENST00000680273.1:c.-183-513A>G	ENSP00000506203.1:n.-183-513A>G
ENST00000681329.1:n.157-513A>G
ENST00000681463.1:c.-75-621A>G	ENSP00000505138.1:n.-75-621A>G
ENST00000681507.1:c.-99-597A>G	ENSP00000505772.1:n.-99-597A>G
ENST00000233057.8:c.-183-513A>G	ENSP00000233057.4:n.-183-513A>G
ENST00000390013.3:c.-99-597A>G	ENSP00000374663.3:n.-99-597A>G
ENST00000395127.6:c.-417-279A>G	ENSP00000378559.2:n.-417-279A>G
ENST00000411537.6:c.-75-621A>G	ENSP00000393921.2:n.-75-621A>G
NM_001135651.2:c.-183-513A>G	NP_001129123.1:n.-183-513A>G
NM_002759.3:c.-417-279A>G	NP_002750.1:n.-417-279A>G
XM_011532987.1:c.-99-597A>G	XP_011531289.1:n.-99-597A>G
XM_011532987.2:c.-99-597A>G	XP_011531289.1:n.-99-597A>G
XM_017004503.1:c.-183-513A>G	XP_016859992.1:n.-183-513A>G
NM_001135651.3:c.-183-513A>G MANE Select	NP_001129123.1:n.-183-513A>G
NM_002759.4:c.-417-279A>G	NP_002750.1:n.-417-279A>G