Canonical Allele Identifier: CA347591345

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874554G>C (hg19) ; chr2:g.88575036G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575036G>C , CM000664.2:g.88575036G>C	GRCh38
NC_000002.11:g.88874554G>C , CM000664.1:g.88874554G>C	GRCh37
NC_000002.10:g.88655669G>C	NCBI36
NG_016424.1:g.57541C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2275C>G
ENST00000682276.1:n.1892C>G
ENST00000682892.1:c.1994C>G	ENSP00000507214.1:p.Ala665Gly
ENST00000682952.1:n.2086C>G
ENST00000684455.1:c.1660C>G
ENST00000684642.1:c.1844C>G	ENSP00000507355.1:p.Ala615Gly
ENST00000684740.1:n.2625C>G
ENST00000303236.9:c.2447C>G MANE Select	ENSP00000307235.3:p.Ala816Gly
ENST00000652099.1:c.2641C>G
ENST00000652736.1:n.2323C>G
ENST00000303236.7:c.2447C>G	ENSP00000307235.3:p.Ala816Gly
ENST00000415570.1:c.2084C>G	ENSP00000412076.1:p.Ala695Gly
ENST00000419748.5:c.1994C>G	ENSP00000408325.1:p.Ala665Gly
ENST00000470706.1:n.90C>G
NM_001313915.1:c.1994C>G	NP_001300844.1:p.Ala665Gly
NM_004836.5:c.2447C>G	NP_004827.4:p.Ala816Gly
NM_004836.6:c.2447C>G	NP_004827.4:p.Ala816Gly
NR_110236.1:n.1173G>C
XM_005264649.3:c.1763C>G	XP_005264706.1:p.Ala588Gly
XM_017005376.2:c.1763C>G	XP_016860865.1:p.Ala588Gly
NM_004836.7:c.2447C>G MANE Select	NP_004827.4:p.Ala816Gly
NM_001313915.2:c.1994C>G	NP_001300844.1:p.Ala665Gly