Canonical Allele Identifier: CA347592186

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874741A>G (hg19) ; chr2:g.88575223A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575223A>G , CM000664.2:g.88575223A>G	GRCh38
NC_000002.11:g.88874741A>G , CM000664.1:g.88874741A>G	GRCh37
NC_000002.10:g.88655856A>G	NCBI36
NG_016424.1:g.57354T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2088T>C
ENST00000682276.1:n.1705T>C
ENST00000682892.1:c.1807T>C	ENSP00000507214.1:p.Ser603Pro
ENST00000682952.1:n.1899T>C
ENST00000684455.1:c.1473T>C
ENST00000684642.1:c.1657T>C	ENSP00000507355.1:p.Ser553Pro
ENST00000684740.1:n.2438T>C
ENST00000303236.9:c.2260T>C MANE Select	ENSP00000307235.3:p.Ser754Pro
ENST00000652099.1:c.2454T>C
ENST00000652736.1:n.2136T>C
ENST00000303236.7:c.2260T>C	ENSP00000307235.3:p.Ser754Pro
ENST00000415570.1:c.1897T>C	ENSP00000412076.1:p.Ser633Pro
ENST00000419748.5:c.1807T>C	ENSP00000408325.1:p.Ser603Pro
ENST00000470706.1:n.48+138T>C
NM_001313915.1:c.1807T>C	NP_001300844.1:p.Ser603Pro
NM_004836.5:c.2260T>C	NP_004827.4:p.Ser754Pro
NM_004836.6:c.2260T>C	NP_004827.4:p.Ser754Pro
NR_110236.1:n.1360A>G
XM_005264649.3:c.1576T>C	XP_005264706.1:p.Ser526Pro
XM_017005376.2:c.1576T>C	XP_016860865.1:p.Ser526Pro
NM_004836.7:c.2260T>C MANE Select	NP_004827.4:p.Ser754Pro
NM_001313915.2:c.1807T>C	NP_001300844.1:p.Ser603Pro