Canonical Allele Identifier: CA347592281

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88575240-T-C
• MyVariant Identifiers: chr2:g.88874758T>C (hg19) ; chr2:g.88575240T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575240T>C , CM000664.2:g.88575240T>C	GRCh38
NC_000002.11:g.88874758T>C , CM000664.1:g.88874758T>C	GRCh37
NC_000002.10:g.88655873T>C	NCBI36
NG_016424.1:g.57337A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2071A>G
ENST00000682276.1:n.1688A>G
ENST00000682892.1:c.1790A>G	ENSP00000507214.1:p.His597Arg
ENST00000682952.1:n.1882A>G
ENST00000684455.1:c.1456A>G
ENST00000684642.1:c.1640A>G	ENSP00000507355.1:p.His547Arg
ENST00000684740.1:n.2421A>G
ENST00000303236.9:c.2243A>G MANE Select	ENSP00000307235.3:p.His748Arg
ENST00000652099.1:c.2437A>G
ENST00000652736.1:n.2119A>G
ENST00000303236.7:c.2243A>G	ENSP00000307235.3:p.His748Arg
ENST00000415570.1:c.1880A>G	ENSP00000412076.1:p.His627Arg
ENST00000419748.5:c.1790A>G	ENSP00000408325.1:p.His597Arg
ENST00000470706.1:n.48+121A>G
NM_001313915.1:c.1790A>G	NP_001300844.1:p.His597Arg
NM_004836.5:c.2243A>G	NP_004827.4:p.His748Arg
NM_004836.6:c.2243A>G	NP_004827.4:p.His748Arg
NR_110236.1:n.1377T>C
XM_005264649.3:c.1559A>G	XP_005264706.1:p.His520Arg
XM_017005376.2:c.1559A>G	XP_016860865.1:p.His520Arg
NM_004836.7:c.2243A>G MANE Select	NP_004827.4:p.His748Arg
NM_001313915.2:c.1790A>G	NP_001300844.1:p.His597Arg