Canonical Allele Identifier: CA347593030

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874956C>A (hg19) ; chr2:g.88575438C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575438C>A , CM000664.2:g.88575438C>A	GRCh38
NC_000002.11:g.88874956C>A , CM000664.1:g.88874956C>A	GRCh37
NC_000002.10:g.88656071C>A	NCBI36
NG_016424.1:g.57139G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1873G>T
ENST00000682276.1:n.1490G>T
ENST00000682892.1:c.1592G>T	ENSP00000507214.1:p.Trp531Leu
ENST00000682952.1:n.1684G>T
ENST00000684455.1:c.1258G>T
ENST00000684642.1:c.1442G>T	ENSP00000507355.1:p.Trp481Leu
ENST00000684740.1:n.2223G>T
ENST00000303236.9:c.2045G>T MANE Select	ENSP00000307235.3:p.Trp682Leu
ENST00000652099.1:c.2239G>T
ENST00000652736.1:n.1921G>T
ENST00000303236.7:c.2045G>T	ENSP00000307235.3:p.Trp682Leu
ENST00000415570.1:c.1682G>T	ENSP00000412076.1:p.Trp561Leu
ENST00000419748.5:c.1592G>T	ENSP00000408325.1:p.Trp531Leu
ENST00000478003.1:n.611G>T
NM_001313915.1:c.1592G>T	NP_001300844.1:p.Trp531Leu
NM_004836.5:c.2045G>T	NP_004827.4:p.Trp682Leu
NM_004836.6:c.2045G>T	NP_004827.4:p.Trp682Leu
NR_110236.1:n.1575C>A
XM_005264649.3:c.1361G>T	XP_005264706.1:p.Trp454Leu
XR_939749.1:n.2324G>T
XM_017005376.2:c.1361G>T	XP_016860865.1:p.Trp454Leu
NM_004836.7:c.2045G>T MANE Select	NP_004827.4:p.Trp682Leu
NM_001313915.2:c.1592G>T	NP_001300844.1:p.Trp531Leu