Canonical Allele Identifier: CA1754446

Gene: EIF2AK3

Linked Data

• ClinVar Variation Id: 895604
• ClinVar RCV Id: RCV001137797 ; RCV001348253
• dbSNP Id: rs374540128
• ExAC: 2:88874534 T / C
• gnomAD v2: 2-88874534-T-C
• gnomAD v3: 2-88575016-T-C
• gnomAD v4: 2-88575016-T-C
• MyVariant Identifiers: chr2:g.88874534T>C (hg19) ; chr2:g.88575016T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575016T>C , CM000664.2:g.88575016T>C	GRCh38
NC_000002.11:g.88874534T>C , CM000664.1:g.88874534T>C	GRCh37
NC_000002.10:g.88655649T>C	NCBI36
NG_016424.1:g.57561A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2295A>G
ENST00000682103.1:c.8A>G
ENST00000682276.1:n.1912A>G
ENST00000682892.1:c.2014A>G	ENSP00000507214.1:p.Lys672Glu
ENST00000682952.1:n.2106A>G
ENST00000684455.1:c.1680A>G
ENST00000684642.1:c.1864A>G	ENSP00000507355.1:p.Lys622Glu
ENST00000684740.1:n.2645A>G
ENST00000303236.9:c.2467A>G MANE Select	ENSP00000307235.3:p.Lys823Glu
ENST00000652099.1:c.2661A>G
ENST00000652736.1:n.2343A>G
ENST00000303236.7:c.2467A>G	ENSP00000307235.3:p.Lys823Glu
ENST00000415570.1:c.2104A>G	ENSP00000412076.1:p.Lys702Glu
ENST00000419748.5:c.2014A>G	ENSP00000408325.1:p.Lys672Glu
ENST00000470706.1:n.110A>G
NM_001313915.1:c.2014A>G	NP_001300844.1:p.Lys672Glu
NM_004836.5:c.2467A>G	NP_004827.4:p.Lys823Glu
NM_004836.6:c.2467A>G	NP_004827.4:p.Lys823Glu
NR_110236.1:n.1153T>C
XM_005264649.3:c.1783A>G	XP_005264706.1:p.Lys595Glu
XM_017005376.2:c.1783A>G	XP_016860865.1:p.Lys595Glu
NM_004836.7:c.2467A>G MANE Select	NP_004827.4:p.Lys823Glu
NM_001313915.2:c.2014A>G	NP_001300844.1:p.Lys672Glu