Canonical Allele Identifier: CA347591890

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs2104411539
• MyVariant Identifiers: chr2:g.88874675T>G (hg19) ; chr2:g.88575157T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575157T>G , CM000664.2:g.88575157T>G	GRCh38
NC_000002.11:g.88874675T>G , CM000664.1:g.88874675T>G	GRCh37
NC_000002.10:g.88655790T>G	NCBI36
NG_016424.1:g.57420A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2154A>C
ENST00000682276.1:n.1771A>C
ENST00000682892.1:c.1873A>C	ENSP00000507214.1:p.Met625Leu
ENST00000682952.1:n.1965A>C
ENST00000684455.1:c.1539A>C
ENST00000684642.1:c.1723A>C	ENSP00000507355.1:p.Met575Leu
ENST00000684740.1:n.2504A>C
ENST00000303236.9:c.2326A>C MANE Select	ENSP00000307235.3:p.Met776Leu
ENST00000652099.1:c.2520A>C
ENST00000652736.1:n.2202A>C
ENST00000303236.7:c.2326A>C	ENSP00000307235.3:p.Met776Leu
ENST00000415570.1:c.1963A>C	ENSP00000412076.1:p.Met655Leu
ENST00000419748.5:c.1873A>C	ENSP00000408325.1:p.Met625Leu
ENST00000470706.1:n.49-80A>C
NM_001313915.1:c.1873A>C	NP_001300844.1:p.Met625Leu
NM_004836.5:c.2326A>C	NP_004827.4:p.Met776Leu
NM_004836.6:c.2326A>C	NP_004827.4:p.Met776Leu
NR_110236.1:n.1294T>G
XM_005264649.3:c.1642A>C	XP_005264706.1:p.Met548Leu
XM_017005376.2:c.1642A>C	XP_016860865.1:p.Met548Leu
NM_004836.7:c.2326A>C MANE Select	NP_004827.4:p.Met776Leu
NM_001313915.2:c.1873A>C	NP_001300844.1:p.Met625Leu