Canonical Allele Identifier: CA427445171

Gene: EIF2AK3

Linked Data

• ClinVar Variation Id: 2785148
• ClinVar RCV Id: RCV003662663
• dbSNP Id: rs1674422053
• gnomAD v4: 2-88575137-C-T
• MyVariant Identifiers: chr2:g.88874655C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575137C>T , CM000664.2:g.88575137C>T	GRCh38
NC_000002.11:g.88874655C>T , CM000664.1:g.88874655C>T	GRCh37
NC_000002.10:g.88655770C>T	NCBI36
NG_016424.1:g.57440G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2174G>A
ENST00000682276.1:n.1791G>A
ENST00000682892.1:c.1893G>A	ENSP00000507214.1:p.Gly631=
ENST00000682952.1:n.1985G>A
ENST00000684455.1:c.1559G>A
ENST00000684642.1:c.1743G>A	ENSP00000507355.1:p.Gly581=
ENST00000684740.1:n.2524G>A
ENST00000303236.9:c.2346G>A MANE Select	ENSP00000307235.3:p.Gly782=
ENST00000652099.1:c.2540G>A
ENST00000652736.1:n.2222G>A
ENST00000303236.7:c.2346G>A	ENSP00000307235.3:p.Gly782=
ENST00000415570.1:c.1983G>A	ENSP00000412076.1:p.Gly661=
ENST00000419748.5:c.1893G>A	ENSP00000408325.1:p.Gly631=
ENST00000470706.1:n.49-60G>A
NM_001313915.1:c.1893G>A	NP_001300844.1:p.Gly631=
NM_004836.5:c.2346G>A	NP_004827.4:p.Gly782=
NM_004836.6:c.2346G>A	NP_004827.4:p.Gly782=
NR_110236.1:n.1274C>T
XM_005264649.3:c.1662G>A	XP_005264706.1:p.Gly554=
XM_017005376.2:c.1662G>A	XP_016860865.1:p.Gly554=
NM_004836.7:c.2346G>A MANE Select	NP_004827.4:p.Gly782=
NM_001313915.2:c.1893G>A	NP_001300844.1:p.Gly631=