Canonical Allele Identifier: CA347591523

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874591A>G (hg19) ; chr2:g.88575073A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575073A>G , CM000664.2:g.88575073A>G	GRCh38
NC_000002.11:g.88874591A>G , CM000664.1:g.88874591A>G	GRCh37
NC_000002.10:g.88655706A>G	NCBI36
NG_016424.1:g.57504T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2238T>C
ENST00000682276.1:n.1855T>C
ENST00000682892.1:c.1957T>C	ENSP00000507214.1:p.Ser653Pro
ENST00000682952.1:n.2049T>C
ENST00000684455.1:c.1623T>C
ENST00000684642.1:c.1807T>C	ENSP00000507355.1:p.Ser603Pro
ENST00000684740.1:n.2588T>C
ENST00000303236.9:c.2410T>C MANE Select	ENSP00000307235.3:p.Ser804Pro
ENST00000652099.1:c.2604T>C
ENST00000652736.1:n.2286T>C
ENST00000303236.7:c.2410T>C	ENSP00000307235.3:p.Ser804Pro
ENST00000415570.1:c.2047T>C	ENSP00000412076.1:p.Ser683Pro
ENST00000419748.5:c.1957T>C	ENSP00000408325.1:p.Ser653Pro
ENST00000470706.1:n.53T>C
NM_001313915.1:c.1957T>C	NP_001300844.1:p.Ser653Pro
NM_004836.5:c.2410T>C	NP_004827.4:p.Ser804Pro
NM_004836.6:c.2410T>C	NP_004827.4:p.Ser804Pro
NR_110236.1:n.1210A>G
XM_005264649.3:c.1726T>C	XP_005264706.1:p.Ser576Pro
XM_017005376.2:c.1726T>C	XP_016860865.1:p.Ser576Pro
NM_004836.7:c.2410T>C MANE Select	NP_004827.4:p.Ser804Pro
NM_001313915.2:c.1957T>C	NP_001300844.1:p.Ser653Pro