Canonical Allele Identifier: CA1754462

Gene: EIF2AK3

Linked Data

• ClinVar Variation Id: 1047750
• ClinVar RCV Id: RCV001352508
• dbSNP Id: rs548535215
• ExAC: 2:88874667 G / A
• gnomAD v2: 2-88874667-G-A
• gnomAD v3: 2-88575149-G-A
• gnomAD v4: 2-88575149-G-A
• MyVariant Identifiers: chr2:g.88874667G>A (hg19) ; chr2:g.88575149G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575149G>A , CM000664.2:g.88575149G>A	GRCh38
NC_000002.11:g.88874667G>A , CM000664.1:g.88874667G>A	GRCh37
NC_000002.10:g.88655782G>A	NCBI36
NG_016424.1:g.57428C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2162C>T
ENST00000682276.1:n.1779C>T
ENST00000682892.1:c.1881C>T	ENSP00000507214.1:p.Gly627=
ENST00000682952.1:n.1973C>T
ENST00000684455.1:c.1547C>T
ENST00000684642.1:c.1731C>T	ENSP00000507355.1:p.Gly577=
ENST00000684740.1:n.2512C>T
ENST00000303236.9:c.2334C>T MANE Select	ENSP00000307235.3:p.Gly778=
ENST00000652099.1:c.2528C>T
ENST00000652736.1:n.2210C>T
ENST00000303236.7:c.2334C>T	ENSP00000307235.3:p.Gly778=
ENST00000415570.1:c.1971C>T	ENSP00000412076.1:p.Gly657=
ENST00000419748.5:c.1881C>T	ENSP00000408325.1:p.Gly627=
ENST00000470706.1:n.49-72C>T
NM_001313915.1:c.1881C>T	NP_001300844.1:p.Gly627=
NM_004836.5:c.2334C>T	NP_004827.4:p.Gly778=
NM_004836.6:c.2334C>T	NP_004827.4:p.Gly778=
NR_110236.1:n.1286G>A
XM_005264649.3:c.1650C>T	XP_005264706.1:p.Gly550=
XM_017005376.2:c.1650C>T	XP_016860865.1:p.Gly550=
NM_004836.7:c.2334C>T MANE Select	NP_004827.4:p.Gly778=
NM_001313915.2:c.1881C>T	NP_001300844.1:p.Gly627=