Canonical Allele Identifier: CA347592240

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874751G>C (hg19) ; chr2:g.88575233G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575233G>C , CM000664.2:g.88575233G>C	GRCh38
NC_000002.11:g.88874751G>C , CM000664.1:g.88874751G>C	GRCh37
NC_000002.10:g.88655866G>C	NCBI36
NG_016424.1:g.57344C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2078C>G
ENST00000682276.1:n.1695C>G
ENST00000682892.1:c.1797C>G	ENSP00000507214.1:p.Asp599Glu
ENST00000682952.1:n.1889C>G
ENST00000684455.1:c.1463C>G
ENST00000684642.1:c.1647C>G	ENSP00000507355.1:p.Asp549Glu
ENST00000684740.1:n.2428C>G
ENST00000303236.9:c.2250C>G MANE Select	ENSP00000307235.3:p.Asp750Glu
ENST00000652099.1:c.2444C>G
ENST00000652736.1:n.2126C>G
ENST00000303236.7:c.2250C>G	ENSP00000307235.3:p.Asp750Glu
ENST00000415570.1:c.1887C>G	ENSP00000412076.1:p.Asp629Glu
ENST00000419748.5:c.1797C>G	ENSP00000408325.1:p.Asp599Glu
ENST00000470706.1:n.48+128C>G
NM_001313915.1:c.1797C>G	NP_001300844.1:p.Asp599Glu
NM_004836.5:c.2250C>G	NP_004827.4:p.Asp750Glu
NM_004836.6:c.2250C>G	NP_004827.4:p.Asp750Glu
NR_110236.1:n.1370G>C
XM_005264649.3:c.1566C>G	XP_005264706.1:p.Asp522Glu
XM_017005376.2:c.1566C>G	XP_016860865.1:p.Asp522Glu
NM_004836.7:c.2250C>G MANE Select	NP_004827.4:p.Asp750Glu
NM_001313915.2:c.1797C>G	NP_001300844.1:p.Asp599Glu