Canonical Allele Identifier: CA347595423

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs1290556322
• gnomAD v2: 2-88889997-C-G
• gnomAD v3: 2-88590479-C-G
• gnomAD v4: 2-88590479-C-G
• MyVariant Identifiers: chr2:g.88889997C>G (hg19) ; chr2:g.88590479C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88590479C>G , CM000664.2:g.88590479C>G	GRCh38
NC_000002.11:g.88889997C>G , CM000664.1:g.88889997C>G	GRCh37
NC_000002.10:g.88671112C>G	NCBI36
NG_016424.1:g.42098G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681996.1:n.2320G>C
ENST00000682276.1:n.584G>C
ENST00000682892.1:c.676G>C	ENSP00000507214.1:p.Ala226Pro
ENST00000682952.1:n.768G>C
ENST00000684455.1:c.342G>C
ENST00000684642.1:c.526G>C	ENSP00000507355.1:p.Ala176Pro
ENST00000303236.9:c.1129G>C MANE Select	ENSP00000307235.3:p.Ala377Pro
ENST00000652099.1:c.1323G>C
ENST00000652736.1:n.1005G>C
ENST00000303236.7:c.1129G>C	ENSP00000307235.3:p.Ala377Pro
ENST00000415570.1:c.766G>C	ENSP00000412076.1:p.Ala256Pro
ENST00000419748.5:c.676G>C	ENSP00000408325.1:p.Ala226Pro
NM_001313915.1:c.676G>C	NP_001300844.1:p.Ala226Pro
NM_004836.5:c.1129G>C	NP_004827.4:p.Ala377Pro
NM_004836.6:c.1129G>C	NP_004827.4:p.Ala377Pro
XM_005264649.3:c.445G>C	XP_005264706.1:p.Ala149Pro
XR_939749.1:n.1338G>C
XM_017005376.2:c.445G>C	XP_016860865.1:p.Ala149Pro
NM_004836.7:c.1129G>C MANE Select	NP_004827.4:p.Ala377Pro
NM_001313915.2:c.676G>C	NP_001300844.1:p.Ala226Pro